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["Gene","Gene MIM","Phenotype","Phenotype MIM","Inheritance","Outcome Considered","Age of Onset","Intervention Considered ","Age of Intervention Implementation","Severity","Likelihood","Efficacy","Acceptability","Knowledge","Total","CATEGORY","RUSP Condition","BabySeq Category"]
["45, X","N/A","Turner syndrome","N/A","Multiple and/or complex pattern","Heart disease","Neonatal","Referral to specialists for surveillance and preemptive management ","Neonatal",2,2,3,3,3,{"$f":"SUM(J2:N2)","v":13},1]
["ABCA3",601615,"Surfactant metabolism dysfunction, pulmonary, 3",610921,"AR","Respiratory distress / failure","Birth","Referral to specialists for surveillance and early management","Neonatal",3,3,1,1,3,{"$f":"SUM(J3:N3)","v":11},2,null,"A"]
["ABCC8",600509,"Hyperinsulinemic hypoglycemia, familial 1",256450,"AR","Hyperinsulinemic hypoglycemia","Neonatal","Referral to specialists for surveillance and preemptive management","Neonatal",3,3,3,2,3,{"$f":"SUM(J4:N4)","v":14},1,null,"A"]
["ABCC8",600509,"Diabetes mellitus, transient and permanent neonatal",125853,"AD","Hyperglycemia","Neonatal","Referral to specialists for surveillance and preemptive management","Neonatal",2,2,3,3,2,{"$f":"SUM(J5:N5)","v":12},1]
["ABCC9",601439,"Cantu Syndrome / Cardiomyopathy, dilated, 1O",608569,"AD","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",2,3,1,3,2,{"$f":"SUM(J6:N6)","v":11},1,null,"B"]
["ABCD1",300371,"Adrenoleukodystrophy",300100,"X-linked","Neurodegeneration","Childhood","Referral to specialists for surveillance and early management","Neonatal",2,2,2,1,2,{"$f":"SUM(J7:N7)","v":9},1,null,"A"]
["ABCG5",605459,"Sitosterolemia",210250,"AR","Coronary artery disease","Childhood","Referral to specialists for surveillance and dietary management","Neonatal",2,3,2,2,2,{"$f":"SUM(J8:N8)","v":11},1,null,"A"]
["ACADM",607008,"Acyl-CoA Dehydrogenase, Medium Chain, Deficiency of",201450,"AR","Hypoglycemia - profound","Infant","Referral to specialists for surveillance and dietary management","Neonatal",3,3,3,3,3,{"$f":"SUM(J9:N9)","v":15},1,"Core","A"]
["ACADS",606885,"Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency - Infantile",201470,"AR","Hypoglycemia","Variable","Referral to specialists for surveillance and dietary management","Neonatal",1,0,3,3,0,{"$f":"SUM(J10:N10)","v":7},2,"Secondary","C"]
["ACADSB",600301,"2-Methylbutyrylglycinuria",610006,"AR","Hypoglycemia - profound","Infant","Referral to specialists for surveillance and dietary management","Infant",2,0,3,3,1,{"$f":"SUM(J11:N11)","v":9},2,null,"C"]
["ACADVL",609575,"VLCAD deficiency",201475,"AR","Hypoglycemic crises","Variable","Referral to specialists for surveillance and dietary management","Neonatal",3,3,3,3,3,{"$f":"SUM(J12:N12)","v":15},1,"Core","A"]
["ACAT1",607809,"Alpha-Methylacetoacetic Aciduria",203750,"AR","Severe metabolic acidosis","Infant","Referral to specialists for surveillance and dietary management","Neonatal",2,3,3,3,2,{"$f":"SUM(J13:N13)","v":13},1,"Core","A"]
["ACTA2",102620,"Familial Thoracic Aortic Aneurysms",611788,"AD","Aortic dissection","Variable","Referral to specialists for surveillance and early management","Childhood",2,3,2,3,2,{"$f":"SUM(J14:N14)","v":12},1,null,"B"]
["ACTC1",102540,"Cardiomyopathy (Hypertrophic 11, dilated, 1R / Left Ventricular Noncompaction 4)",612098,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Neonatal",2,3,2,3,2,{"$f":"SUM(J15:N15)","v":12},1,null,"B"]
["ACTG1",102560,"Baraitser-Winter syndrome 2",614583,"AD","Intellectual disability and developmental delay","Infant","Referral to specialists for surveillance and supportive care","N / A",2,3,0,0,1,{"$f":"SUM(J16:N16)","v":6},2,null,"A"]
["ACTG1",102560,"Deafness, autosomal dominant 20/26",604717,"AD","Communication deficits","Childhood","Referral to specialists for surveillance and preemptive management","Infant",1,3,3,3,2,{"$f":"SUM(J17:N17)","v":12},1,null,"A"]
["ACTN1",102575,"Bleeding disorder, platelet-type, 15",615193,"AD","Bleeding","Birth","Referral to specialists for surveillance and supportive care","N / A",0,2,0,0,0,{"$f":"SUM(J18:N18)","v":2},2,null,"A"]
["ACTN2",102573,"Cardiomyopathy, Familial Hypertrophic, 23, w/ or w/o LVNC / dilated 1AA w/ or w/o LVNC",612158,"AD","Arrhythmia and severe cardiac events","Adulthood","Referral to specialists for surveillance and early management","Neonatal",2,2,2,3,2,{"$f":"SUM(J19:N19)","v":11},1,null,"B"]
["ACVRL1",601284,"Telangiectasia, hereditary hemorrhagic, type 2",600376,"AD","Syndromic manifestations","Adolescent-Adulthood","Referral to specialists for surveillance and early management","Infant",2,3,2,2,3,{"$f":"SUM(J20:N20)","v":12},1,null,"A"]
["ADA",608958,"Severe Combined Immunodeficiency due to ADA Deficiency",102700,"AR","Immunodeficiency - combined","Infant","Referral to specialists for surveillance and preemptive management ","Neonatal",3,3,3,2,3,{"$f":"SUM(J21:N21)","v":14},1,null,"A"]
["ADCK3",606980,"Coenzyme Q10 deficiency, primary, 4",612016,"AR","Neurologic involvement","Childhood","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,1,3,1,{"$f":"SUM(J22:N22)","v":9},2]
["ADCY1",103072,"?Deafness, autosomal recessive 44",610154,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Birth",1,3,2,3,0,{"$f":"SUM(J23:N23)","v":9},2]
["ADGRV1",602851,"Usher Syndrome, type 2C",605472,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,2,3,3,{"$f":"SUM(J24:N24)","v":12},1]
["ADK",102750,"Hypermethioninemia due to adenosine kinase deficiency",614300,"AR","Hyperinsulinism","Neonatal","Referral to specialists for surveillance and dietary management","Neonatal",2,3,2,2,1,{"$f":"SUM(J25:N25)","v":10},1,"Secondary","A"]
["AGA",613228,"Aspartylglucosaminuria",208400,"AR","Neurodegeneration","Childhood","Referral to specialists for surveillance and early management","Infant",2,3,1,1,2,{"$f":"SUM(J26:N26)","v":9},2,null,"A"]
["AGL",610860,"Glycogen Storage Disease III",232400,"AR","Syndromic manifestations","Infant","Referral to specialists for surveillance and dietary management","Neonatal",1,3,2,3,3,{"$f":"SUM(J27:N27)","v":12},1,null,"A"]
["AHCY",180960,"Hypermethioninemia with deficiency of S-Adenosylhomocysteine Hydrolase",613752,"AR","Intellectual disability and psychomotor delay","Infant","Referral to specialists for surveillance and dietary management","Neonatal",2,3,2,3,0,{"$f":"SUM(J28:N28)","v":10},2,"Secondary"]
["AIFM1",300169,"Deafness, X-linked 5 / Cowchock Syndrome",300614,"X-linked","Communication deficits","Childhood","Referral to specialists for surveillance and preemptive management","Childhood",1,3,1,3,1,{"$f":"SUM(J29:N29)","v":9},2]
["AIP",605555,"Pituitary adenoma, growth hormone-secreting / Pituitary adenoma, ACTH-secreting / Pituitary adenoma, prolactin-secreting","102200, 219090, 600634","AD","Pituitary adenoma","Variable","Referral to specialists for surveillance and/or preemptive management","Childhood",1,2,3,3,3,{"$f":"SUM(J30:N30)","v":12},1,null,"B"]
["AK2",103020,"Reticular Dysgenesis",267500,"AR","Immunodeficiency - combined","Birth","Referral to specialists for surveillance and preemptive management ","Neonatal",3,3,1,2,2,{"$f":"SUM(J31:N31)","v":11},1]
["AKAP9",604001,"Long QT Syndrome 11",611820,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and preemptive management","Childhood",3,0,2,2,0,{"$f":"SUM(J32:N32)","v":7},2,null,"C"]
["ALB",103600,"Analbuminemia",616000,"AR","Mild edema, hypotension, and fatigue","Neonatal","Referral to specialists for surveillance and preemptive management ","Neonatal",0,3,2,3,1,{"$f":"SUM(J33:N33)","v":9},2,null,"A"]
["ALB",103600,"Familial dysalbuminemic hyperthyroxinemia",615999,"AD","Dysalbuminemic hyperthyroxinemia","Childhood","Referral to specialists for surveillance and preemptive management","Childhood",1,1,3,3,2,{"$f":"SUM(J34:N34)","v":10},1]
["ALDH3A2",609523,"Sjogren-Larsson Syndrome",270200,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and supportive care ","Infant",1,3,0,0,2,{"$f":"SUM(J35:N35)","v":6},2,null,"A"]
["ALDH7A1",107323,"Pyridoxine-dependent epilepsy",266100,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and dietary management","Neonatal",1,3,2,3,3,{"$f":"SUM(J36:N36)","v":12},1]
["ALDOB",612724,"Fructose intolerance",229600,"AR","Fructose intolerance manifestations","Infant","Referral to specialists for surveillance and dietary management","Infant",2,3,3,3,3,{"$f":"SUM(J37:N37)","v":14},1,null,"A"]
["ALMS1",606844,"Alstrom Syndrome",203800,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",2,3,1,3,3,{"$f":"SUM(J38:N38)","v":12},1,null,"A"]
["ANK2",106410,"Long QT Syndrome 4",600919,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Neonatal",2,2,2,2,2,{"$f":"SUM(J39:N39)","v":10},1,null,"B"]
["ANKRD1",609599,"Cardiomyopathy","N/A","AD","Arrhythmia and severe cardiac events","Adulthood","Referral to specialists for surveillance and early management","Childhood",2,3,2,3,1,{"$f":"SUM(J40:N40)","v":11},2,null,"B"]
["ANO6",608663,"Scott syndrome",262890,"AR","Bleeding and hemorrhagic diathesis","Adolescent","Referral to specialists for surveillance and preemptive management","Childhood",1,3,3,3,0,{"$f":"SUM(J41:N41)","v":10},2]
["AP3B1",603401,"Hermansky-Pudlak Syndrome 2",608233,"AR","Syndromic manifestations","Infant","Referral to specialists for surveillance and early management","Neonatal",0,3,3,3,1,{"$f":"SUM(J42:N42)","v":10},2,null,"A"]
["APC",611731,"Familial Adenomatous Polyposis",175100,"AD","Hereditary cancer predisposition","Adolescent","Referral to specialists for surveillance and/or preemptive management","Childhood",2,3,3,2,3,{"$f":"SUM(J43:N43)","v":13},1,null,"A"]
["APOB",107730,"Familial hypercholesterolemia due to ligand-defective APOB",144010,"AD","Hypercholesterolemia and cardiovascular disease","Variable","Referral to specialists for surveillance and preemptive management ","Neonatal",2,3,3,3,2,{"$f":"SUM(J44:N44)","v":13},1,null,"A"]
["APOL1",603743,"{Susceptibility to end-stage renal disease, nondiabetic / Susceptibility to glomerulosclerosis, focal segmental, 4}",612551,"AR","Kidney disease","Variable","Referral to specialists for surveillance and early management","Variable",1,1,1,3,2,{"$f":"SUM(J45:N45)","v":8},2]
["APTX",606350,"Coenzyme Q10 deficiency, secondary",612016,"AR","Neurologic involvement","Childhood","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,1,3,1,{"$f":"SUM(J46:N46)","v":9},2,null,"A"]
["ARG1",608313,"Argininemia",207800,"AR","Syndromic manifestations","Infant","Referral to specialists for surveillance and dietary management","Neonatal",1,3,2,2,2,{"$f":"SUM(J47:N47)","v":10},1,"Secondary","A"]
["ARHGEF6",300267,"Mental Retardation, X-linked 46",300436,"X-linked","Intellectual disability","Childhood","Referral to specialists for surveillance and supportive care","Neonatal",1,3,0,0,1,{"$f":"SUM(J48:N48)","v":5},2]
["ARMC4",615408,"Ciliary dyskinesia, primary, 23",615451,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,2,{"$f":"SUM(J49:N49)","v":10},1,null,"A"]
["ARSA",607574,"Metachromatic Leukodystrophy",250100,"AR","Syndromic manifestations","Variable","Referral to specialists for surveillance and early management ","Variable",2,3,1,1,2,{"$f":"SUM(J50:N50)","v":9},2,null,"A"]
["ARSB",611542,"Mucopolysaccharidosis type VI (Maroteaux-Lamy)",253200,"AR","Syndromic manifestations","Variable","Referral to specialists for surveillance and early management","Infant",2,3,2,2,2,{"$f":"SUM(J51:N51)","v":11},1,null,"A"]
["ASAH1",613468,"Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy",159950,"AR","Muscle weakness","Childhood","Referral to specialists for surveillance and supportive care","N / A",2,3,0,0,1,{"$f":"SUM(J52:N52)","v":6},2]
["ASCL1",100790,"Central hypoventilation syndrome / Haddad syndrome",209880,"AD","Hypoventilation","Birth","Referral to specialists for surveillance and early management","Neonatal",3,0,3,2,0,{"$f":"SUM(J53:N53)","v":8},2,null,"C"]
["ASL",608310,"Argininosuccinic aciduria",207900,"AR","Hyperammonemic crisis and chronic liver disease","Neonatal","Referral to specialists for surveillance and dietary management","Neonatal",2,3,2,2,3,{"$f":"SUM(J54:N54)","v":12},1,"Core","A"]
["ASS1",603570,"Citrullinemia",215700,"AR","Hyperammonemic crisis","Infant","Referral to specialists for surveillance and dietary management","Neonatal",3,3,2,2,2,{"$f":"SUM(J55:N55)","v":12},1,"Core","A"]
["ATP6V1B1",192132,"Renal tubular acidosis with deafness",267300,"AR","Renal tubular acidosis","Infant","Referral to specialists for surveillance and preemptive management ","Infant",1,3,3,3,2,{"$f":"SUM(J56:N56)","v":12},1,null,"A"]
["ATP7A",300011,"Menkes Disease",309400,"X-linked","Neurologic involvement","Birth","Referral to specialists for surveillance and early management","Neonatal",3,3,1,3,2,{"$f":"SUM(J57:N57)","v":12},1,null,"A"]
["ATP7B",606882,"Wilson Disease",277900,"AR","Liver cirrhosis","Variable","Referral to specialists for surveillance and dietary management","Neonatal",2,2,2,3,3,{"$f":"SUM(J58:N58)","v":12},1,null,"A"]
["BAG3",603883,"Cardiomyopathy (Dilated, 1HH)",613881,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Neonatal",2,3,2,3,2,{"$f":"SUM(J59:N59)","v":12},1,null,"B"]
["BCHE",177400,"Increased sensitivity to choline ester anesthesia","N/A","AR","Prolonged apnea","Variable","Referral to specialists for surveillance and early management","Neonatal",0,0,3,3,3,{"$f":"SUM(J60:N60)","v":9},2]
["BCKDHA",608348,"Maple syrup urine disease, type Ia, Ib, and type II",248600,"AR","Syndromic manifestations","Neonatal","Referral to specialists for surveillance and dietary management ","Neonatal",2,3,2,2,3,{"$f":"SUM(J61:N61)","v":12},1,"Core","A"]
["BCKDHB",248611,"Maple syrup urine disease, type Ib",248600,"AR","Syndromic manifestations","Neonatal","Referral to specialists for surveillance and dietary management ","Neonatal",2,3,2,2,3,{"$f":"SUM(J62:N62)","v":12},1,"Core","A"]
["BCS1L",603647,"Leigh syndrome / GRACILE syndrome / Mitochondrial complex III deficiency, nuclear type 1",256000,"AR","Mitochondrial manifestations and lactic acidosis ","Birth","Referral to specialists for surveillance and supportive care","N / A",3,3,0,0,2,{"$f":"SUM(J63:N63)","v":8},2,null,"A"]
["BDNF",113505,"Central hypoventilation syndrome",209880,"AD","Hypoventilation","Birth","Referral to specialists for surveillance and early management","Neonatal",3,0,3,2,0,{"$f":"SUM(J64:N64)","v":8},2,null,"C"]
["BLK",191305,"MODY, type XI (MODY11)",613375,"AD","Diabetes mellitus","Adulthood","Referral to specialists for surveillance and preemptive management ","Adulthood",1,3,0,0,1,{"$f":"SUM(J65:N65)","v":5},4]
["BLM",604610,"Bloom syndrome",210900,"AR","Hereditary cancer predisposition","Childhood","Referral to specialists for surveillance and/or preemptive management","Infant",2,3,1,1,2,{"$f":"SUM(J66:N66)","v":9},2,null,"A"]
["BLOC1S3",609762,"Hermansky-Pudlak Syndrome 8",614077,"AR","Bleeding","Variable","Referral to specialists for surveillance and preemptive management","Neonatal",0,3,3,3,0,{"$f":"SUM(J67:N67)","v":9},2,null,"C"]
["BLOC1S6",604310,"Hermansky-Pudlak syndrome, 9",614171,"AR","Bleeding","Variable","Referral to specialists for surveillance and preemptive management","Neonatal",0,3,3,3,0,{"$f":"SUM(J68:N68)","v":9},2,null,"C"]
["BMPR1A",601299,"Polyposis, juvenile intestinal",174900,"AD","GastrointestinaI cancer","Variable","Referral to specialists for surveillance and/or preemptive management","Infant",2,3,2,2,2,{"$f":"SUM(J69:N69)","v":11},1,null,"A"]
["BMPR2",600799,"Pulmonary hypertension, familial primary, 1, with or without HHT / fenfluramine or dexfenfluramine-associated / Pulmonary venoocclusive disease 1","178600 / 265450","AD","Pulmonary hypertension","Variable","Referral to specialists for surveillance and early management","Neonatal",2,2,1,2,3,{"$f":"SUM(J70:N70)","v":10},1,null,"B"]
["BRCA1",113705,"Hereditary Breast and Ovarian Cancer",604370,"AD","Hereditary cancer predisposition","Adulthood","Referral to specialists for surveillance and/or preemptive management","Adulthood",2,3,2,3,3,{"$f":"SUM(J71:N71)","v":13},3,null,"C"]
["BRCA2",600185,"Fanconi anemia, complementation group D1",605724,"AR","Bone marrow dysfunction and multi-system disease","Childhood","Referral to specialists for surveillance and early management","Infant",2,3,2,2,2,{"$f":"SUM(J72:N72)","v":11},1,null,"A"]
["BRCA2",600185,"Hereditary Breast and Ovarian Cancer",612555,"AD","Hereditary cancer predisposition","Adulthood","Referral to specialists for surveillance and/or preemptive management","Adulthood",2,3,2,3,3,{"$f":"SUM(J73:N73)","v":13},3,null,"C"]
["BRIP1",605882,"Fanconi Anemia complementation group J",609054,"AR","Bone marrow dysfunction and multi-system disease","Childhood","Referral to specialists for surveillance and early management","Infant",2,3,2,2,1,{"$f":"SUM(J74:N74)","v":10},1]
["BRIP1",605882,"Breast Cancer, early-onset ",114480,"AD","Hereditary cancer predisposition","Adulthood","Referral to specialists for surveillance and/or preemptive management","Adulthood",2,2,2,3,2,{"$f":"SUM(J75:N75)","v":11},3]
["BSND",606412,"Bartter syndrome type 4A (recessive)",602522,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,1,{"$f":"SUM(J76:N76)","v":11},1,null,"A"]
["BTD",609019,"Biotinidase Deficiency",253260,"AR","Developmental delay","Infant","Referral to specialists for surveillance and preemptive management ","Neonatal",1,3,3,3,3,{"$f":"SUM(J77:N77)","v":13},1,"Core","A"]
["C21ORF59",615494,"Ciliary dyskinesia, primary, 26",615500,"AR","Syndromic manifestations","Neonatal","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,1,{"$f":"SUM(J78:N78)","v":9},1]
["CACNA1C",114205,"Arrhythmia (Brugada Syndrome 3, Timothy syndrome)",601005,"AD","Arrhythmia and severe cardiac events","Infant","Referral to specialists for surveillance and early management","Neonatal",2,3,2,2,2,{"$f":"SUM(J79:N79)","v":11},1,null,"B"]
["CACNA1D",114206,"Sinoatrial Node Dysfunction and Deafness",614896,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,1,{"$f":"SUM(J80:N80)","v":11},2,null,"C"]
["CACNA1S",114208,"Malignant hyperthermia susceptibility 5",601887,"AD","Anesthesia-induced malignant hyperthermia","Variable","Referral to specialists for surveillance and preemptive management ","Neonatal",2,1,3,3,2,{"$f":"SUM(J81:N81)","v":11},1,null,"C"]
["CACNB2",600003,"Brugada Syndrome 4",611876,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Neonatal",2,3,2,2,2,{"$f":"SUM(J82:N82)","v":11},1,null,"C"]
["CALM1",114180,"Arrhythmia (Long QT Syndrome 14 / Ventricular tachycardia, catecholaminergic polymorphic, 4)",616247,"AD","Arrhythmia and severe cardiac events","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",3,3,2,2,2,{"$f":"SUM(J83:N83)","v":12},1]
["CALM2",114182,"Long QT Syndrome 15",616249,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and preemptive management","Neonatal",3,2,2,2,2,{"$f":"SUM(J84:N84)","v":11},1]
["CALR3",611414,"?Cardiomyopathy, Familial Hypertrophic, 19",613875,"AD","Arrhythmia and severe cardiac events","Adulthood","Referral to specialists for surveillance and early management","Neonatal",2,0,2,3,0,{"$f":"SUM(J85:N85)","v":7},2]
["CARD11",607210,"Immunodeficiency 11",615206,"AR","Immunodeficiency","Infant","Referral to specialists for surveillance and preemptive management","Infant",3,3,3,2,1,{"$f":"SUM(J86:N86)","v":12},1]
["CASQ2",114251,"Ventricular tachycardia, catecholaminergic polymorphic, 2 (recessive)",611938,"AR","Arrhythmia and severe cardiac events","Childhood","Referral to specialists for surveillance and preemptive management","Neonatal",3,2,2,2,2,{"$f":"SUM(J87:N87)","v":11},1,null,"A"]
["CASQ2",114251,"Ventricular Tachycardia, catecholaminergic polymorphic, 2",611938,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Neonatal",2,3,2,2,0,{"$f":"SUM(J88:N88)","v":9},1]
["CASR",601199,"Hyperparathyroidism, neonatal severe",239200,"AR","Hypercalcemia - severe","Neonatal","Referral to specialists for surveillance and preemptive management ","Neonatal",3,3,3,2,2,{"$f":"SUM(J89:N89)","v":13},1]
["CASR",601199,"Hypocalcemia, AD, w/ or w/o Bartter syndrome",601198,"AD","Hypocalcemia","Variable","Referral to specialists for surveillance and preemptive management ","Variable",1,3,3,3,1,{"$f":"SUM(J90:N90)","v":11},1]
["CATSPER2",607249,"Sensorineural Deafness and Male Infertility",611102,"AR","Male infertility","Variable","Referral to specialists for surveillance and early management","Neonatal",0,3,2,2,1,{"$f":"SUM(J91:N91)","v":8},2]
["CAV1",601047,"Pulmonary hypertension, primary, 3 / ?Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome / ?Lipodystrophy, congenital generalized, type 3",615343,"AD","Pulmonary hypertension","Variable","Referral to specialists for surveillance and early management","Childhood",2,3,1,2,0,{"$f":"SUM(J92:N92)","v":8},2]
["CAV3",601253,"Long QT Syndrome 9",611818,"AD","Arrhythmia and severe cardiac events","Childhood","Referral to specialists for surveillance and preemptive management","Neonatal",3,0,2,2,0,{"$f":"SUM(J93:N93)","v":7},2,null,"C"]
["CBS",613381,"Homocystinuria, B6-responsive and nonresponsive types",236200,"AR","Thrombosis","Childhood","Referral to specialists for surveillance and dietary management","Infant",2,3,3,2,3,{"$f":"SUM(J94:N94)","v":13},1,"Core","A"]
["CCDC103",614677,"Ciliary dyskinesia, primary, 17",614679,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,2,{"$f":"SUM(J95:N95)","v":10},1,null,"C"]
["CCDC114",615038,"Ciliary dyskinesia, primary, 20",615067,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,2,{"$f":"SUM(J96:N96)","v":10},1]
["CCDC151",615956,"Ciliary dyskinesia, primary, 30",616037,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,2,{"$f":"SUM(J97:N97)","v":10},1]
["CCDC39",613798,"Ciliary dyskinesia, primary, 14",613807,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,3,{"$f":"SUM(J98:N98)","v":11},1,null,"A"]
["CCDC40",613799,"Ciliary dyskinesia, primary, 15",613808,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,2,{"$f":"SUM(J99:N99)","v":10},1,null,"A"]
["CCDC50",611051,"Deafness, autosomal dominant 44",607453,"AD","Communication deficits","Childhood","Referral to specialists for surveillance and preemptive management","Infant",1,3,3,3,1,{"$f":"SUM(J100:N100)","v":11},2,null,"C"]
["CCDC65",611088,"Ciliary dyskinesia, primary, 27",615504,"AR","Syndromic manifestations","Neonatal","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,1,{"$f":"SUM(J101:N101)","v":9},1]
["CCNO",607752,"Ciliary dyskinesia, primary, 29",615872,"AR","Syndromic manifestations","Childhood","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,1,{"$f":"SUM(J102:N102)","v":9},1]
["CD247",186780,"Immunodeficiency due to defect in CD3-zeta",610163,"AR","Immunodeficiency","Infant","Referral to specialists for surveillance and preemptive management ","Neonatal",2,0,3,2,1,{"$f":"SUM(J103:N103)","v":8},2]
["CD36",173510,"Platelet Glycoprotein IV Deficiency",608404,"AR","Bleeding","Neonatal","Referral to specialists for surveillance and preemptive management","Neonatal",0,0,2,2,2,{"$f":"SUM(J104:N104)","v":6},2,null,"C"]
["CD3D",186790,"Immunodeficiency 19",615617,"AR","Immunodeficiency","Infant","Referral to specialists for surveillance and preemptive management ","Neonatal",3,3,3,2,1,{"$f":"SUM(J105:N105)","v":12},1]
["CD3E",186830,"Immunodeficiency 18 (Severe Combined Immunodeficiency)",615615,"AR","Immunodeficiency","Infant","Referral to specialists for surveillance and preemptive management ","Neonatal",3,3,3,2,1,{"$f":"SUM(J106:N106)","v":12},1]
["CD3G",186740,"Immunodeficiency 17, CD3 gamma deficient",615607,"AR","Immunodeficiency","Infant","Referral to specialists for surveillance and preemptive management ","Neonatal",3,0,3,2,0,{"$f":"SUM(J107:N107)","v":8},2]
["CD40LG",300386,"Immunodeficiency, X-linked, with hyper-IgM ",308230,"X-linked","Immunodeficiency","Infant","Referral to specialists for surveillance and preemptive management ","Infant",2,3,2,2,2,{"$f":"SUM(J108:N108)","v":11},1,null,"A"]
["CDC73",607393,"Hyperparathyroidism, familial primary",145000,"AD","Parathyroid carcinoma","Adulthood","Referral to specialists for surveillance and/or preemptive management","Childhood",1,3,3,3,2,{"$f":"SUM(J109:N109)","v":12},1]
["CDH1",192090,"Hereditary diffuse gastric cancer",137215,"AD","Gastric cancer","Adulthood","Referral to specialists for surveillance and/or preemptive management","Variable",2,3,3,0,3,{"$f":"SUM(J110:N110)","v":11},3,null,"B"]
["CDH23",605516,"Deafness, autosomal recessive 12 (DFNB12)",601386,"AR","Communication deficits","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,2,{"$f":"SUM(J111:N111)","v":12},1,null,"A"]
["CDH23",605516,"Usher Syndrome, type 1D ",601067,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",2,3,2,3,3,{"$f":"SUM(J112:N112)","v":13},1,null,"A"]
["CDH23 / PCDH15",605514,"Usher Syndrome, type ID / F Digenic",601067,"Multiple and/or complex pattern","Syndromic manifestations","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",2,3,2,3,1,{"$f":"SUM(J113:N113)","v":11},2]
["CDKN2A",600160,"Pancreatic cancer / melanoma syndrome",606719,"AD","Melanoma","Adulthood","Referral to specialists for surveillance and preemptive management ","Adolescent",2,3,2,2,3,{"$f":"SUM(J114:N114)","v":12},1,null,"B"]
["CEACAM16",614591,"?Deafness, autosomal dominant 4B",614614,"AD","Communication deficits","Adolescent","Referral to specialists for surveillance and preemptive management","Childhood",1,3,3,3,1,{"$f":"SUM(J115:N115)","v":11},2,null,"C"]
["CEL",114840,"MODY, type VIII (MODY8)",609812,"AD","Diabetes mellitus","Adult","Referral to specialists for surveillance and preemptive management ","Childhood",1,3,2,2,1,{"$f":"SUM(J116:N116)","v":9},2]
["CENPF",600236,"Stromme Syndrome",243605,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and supportive care ","Neonatal",2,3,0,0,1,{"$f":"SUM(J117:N117)","v":6},2]
["CFTR",602421,"Cystic Fibrosis",219700,"AR","Pulmonary disease","Infant","Referral to specialists for surveillance and early management","Infant",2,3,2,2,3,{"$f":"SUM(J118:N118)","v":12},1,null,"A"]
["CIB2",605564,"Usher Syndrome, type IJ",614869,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",2,3,2,3,2,{"$f":"SUM(J119:N119)","v":12},1]
["CIB2",605564,"Deafness, autosomal recessive 48",609439,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,3,{"$f":"SUM(J120:N120)","v":13},1]
["CISD2",611507,"Wolfram syndrome 2",604928,"AR","Diabetes mellitus / insipidus","Childhood","Referral to specialists for surveillance and preemptive management ","Neonatal",2,3,3,2,2,{"$f":"SUM(J121:N121)","v":12},1,null,"C"]
["CLCNKB",602023,"Bartter syndrome, type 3",607364,"AR","Hypotension","Variable","Referral to specialists for surveillance and preemptive management ","Variable",2,3,2,3,2,{"$f":"SUM(J122:N122)","v":12},1]
["CLDN14",605608,"Deafness, autosomal recessive 29",614035,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,2,{"$f":"SUM(J123:N123)","v":12},1,null,"A"]
["CLN3",607042,"Ceroid lipofuscinosis, neuronal, 3",204200,"AR","Neurodegeneration and retinal degeneration","Childhood","Referral to specialists for surveillance and supportive care","N / A",2,3,0,0,3,{"$f":"SUM(J124:N124)","v":8},2,null,"A"]
["CLN5",608102,"Ceroid lipofuscinosis, neuronal, 5 (CLN5)",256731,"AR","Neurodegeneration and retinal degeneration","Childhood","Referral to specialists for surveillance and supportive care","N / A",2,3,0,0,2,{"$f":"SUM(J125:N125)","v":7},2,null,"A"]
["CLN6",606725,"Ceroid lipofuscinosis, neuronal, 6",601780,"AR","Neurodegeneration and retinal degeneration","Childhood","Referral to specialists for surveillance and supportive care","N / A",2,3,0,0,2,{"$f":"SUM(J126:N126)","v":7},2,null,"A"]
["CLN8",607837,"Ceroid lipofuscinosis, neuronal, 8 (CLN8), Northern Epilepsy Variant",610003,"AR","Epileptic seizures and intellectual disability","Adulthood","Referral to specialists for surveillance and supportive care","N / A",1,3,0,0,3,{"$f":"SUM(J127:N127)","v":7},4]
["CLN8",607837,"Ceroid lipofuscinosis, neuronal, 8 (CLN8)",600143,"AR","Neurodegeneration and retinal degeneration","Childhood","Referral to specialists for surveillance and supportive care","N / A",2,3,0,0,2,{"$f":"SUM(J128:N128)","v":7},2,null,"A"]
["CLPP",601119,"Deafness, autosomal recessive 81 (aka Perrault syndrome 3)",614129,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,1,{"$f":"SUM(J129:N129)","v":11},1,null,"C"]
["CLRN1",606397,"Usher Syndrome, type 3A",276902,"AR","Syndromic manifestations","Infant","Referral to specialists for surveillance and preemptive management","Infant",1,3,2,3,2,{"$f":"SUM(J130:N130)","v":11},1,null,"A"]
["COCH",603196,"Deafness, autosomal dominant 9 (Non-syndromic deafness, dominant)",601369,"AD","Communication deficits and vestibular involvement","Adulthood","Referral to specialists for surveillance and preemptive management","Adulthood",1,3,3,3,2,{"$f":"SUM(J131:N131)","v":12},3,null,"A"]
["COL11A1",120280,"Fibrochondrogenesis 1",228520,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and supportive care","N / A",3,3,0,0,2,{"$f":"SUM(J132:N132)","v":8},2]
["COL11A1",120280,"Stickler syndrome, type II / Marshall syndrome",604841,"AD","Syndromic manifestations","Neonatal","Referral to specialists for surveillance and preemptive management","Infant",2,3,3,3,2,{"$f":"SUM(J133:N133)","v":13},1,null,"A"]
["COL11A2",120290,"Otospondylomegaepiphyseal Dysplasia",215150,"Multiple and/or complex pattern","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,2,{"$f":"SUM(J134:N134)","v":12},1,null,"A"]
["COL11A2",120290,"Stickler Syndrome, Type III",184840,"Multiple and/or complex pattern","Communication deficits","Childhood","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,2,{"$f":"SUM(J135:N135)","v":12},1]
["COL11A2",120290,"Deafness, autosomal recessive 53",609706,"AR","Communication deficits","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,1,{"$f":"SUM(J136:N136)","v":11},1]
["COL11A2",120290,"Deafness, autosomal dominant 13 (DFNA13)",601868,"AD","Communication deficits","Adolescent ","Referral to specialists for surveillance and preemptive management","Childhood",0,3,3,3,1,{"$f":"SUM(J137:N137)","v":10},2]
["COL1A1",120150,"Osteogenesis Imperfecta, type I",166200,"AD","Osteogenesis imperfecta manifestations","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,2,2,3,{"$f":"SUM(J138:N138)","v":11},1]
["COL1A1",120150,"Caffey Disease",114000,"AD","Hyperostosis and pain","Infant","Referral to specialists for surveillance and early management","Infant",1,3,2,3,2,{"$f":"SUM(J139:N139)","v":11},1,null,"C"]
["COL1A2",120160,"Ehlers-Danlos syndrome, cardiac valvular form",225320,"AR","Syndromic manifestations","Childhood","Referral to specialists for surveillance and early management","Childhood",2,3,1,2,1,{"$f":"SUM(J140:N140)","v":9},2]
["COL1A2",120160,"Osteogenesis imperfecta, type I &  type III",166200,"AD","Osteogenesis imperfecta manifestations","Childhood","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,2,2,3,{"$f":"SUM(J141:N141)","v":11},1,null,"A"]
["COL2A1",120140,"Stickler syndrome, type I / Epiphyseal dysplasia, multiple, with myopia and deafness / Kniest dysplasia / Spondyloperipheral dysplasia",108300,"AD","Syndromic manifestations","Neonatal","Referral to specialists for surveillance and preemptive management","Infant",1,3,3,3,3,{"$f":"SUM(J142:N142)","v":13},1,null,"A"]
["COL3A1",120180,"Ehlers-Danlos Syndrome Type IV - Vascular Type",130050,"AD","Arterial dissection and organ rupture","Variable","Referral to specialists for surveillance and preemptive management ","Childhood",3,3,1,2,2,{"$f":"SUM(J143:N143)","v":11},1,null,"A"]
["COL4A3",120070,"Alport syndrome, autosomal recessive",203780,"AR","Syndromic manifestations","Childhood","Referral to specialists for surveillance and early management","Neonatal",2,3,2,3,3,{"$f":"SUM(J144:N144)","v":13},1,null,"A"]
["COL4A4",120131,"Alport syndrome, autosomal recessive",203780,"AR","Syndromic manifestations","Childhood","Referral to specialists for surveillance and early management","Neonatal",2,3,2,3,3,{"$f":"SUM(J145:N145)","v":13},1,null,"A"]
["COL4A5",303630,"Alport Syndrome",301050,"X-linked","Syndromic manifestations","Neonatal","Referral to specialists for surveillance and early management","Neonatal",2,3,2,3,3,{"$f":"SUM(J146:N146)","v":13},1,null,"A"]
["COL9A1",614134,"Stickler syndrome, type IV",614134,"AR","Syndromic manifestations","Childhood","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,1,{"$f":"SUM(J147:N147)","v":11},1]
["COQ6",614647,"Coenzyme Q10 deficiency, primary, 6",614650,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and preemptive management ","Neonatal",2,3,2,3,1,{"$f":"SUM(J148:N148)","v":11},1,null,"C"]
["CORO1A",605000,"Immunodeficiency 8",615401,"AR","Recurrent infection","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",2,3,3,2,1,{"$f":"SUM(J149:N149)","v":11},1]
["CP",117700,"Hemosiderosis, systemic, due to aceruloplasminemia",604290,"AR","Syndromic manifestations","Adulthood","Referral to specialists for surveillance and preemptive management","Adolescent",1,3,2,3,1,{"$f":"SUM(J150:N150)","v":10},3,null,"B"]
["CPS1",608307,"Carbamoylphosphate synthetase I deficiency",237300,"AR","Hyperammonemic crisis","Neonatal","Referral to specialists for surveillance and dietary management","Neonatal",2,3,3,2,3,{"$f":"SUM(J151:N151)","v":13},1,null,"A"]
["CPT1A",600528,"CPT deficiency, hepatic, type IA ",255120,"AR","Hypoketotic hypoglycemia","Infant","Referral to specialists for surveillance and dietary management","Infant",3,2,2,3,2,{"$f":"SUM(J152:N152)","v":12},1,"Secondary","A"]
["CPT2",600650,"Myopathy due to CPTII Deficiency",255110,"AR","Myopathy and rhabdomyolysis","Childhood","Referral to specialists for surveillance and dietary management","Infant",2,3,3,3,2,{"$f":"SUM(J153:N153)","v":13},1,"Secondary","A"]
["CRYAB",123590,"Cardiomyopathy, dilated, 1II",615184,"AD","Arrhythmia and severe cardiac events","Adulthood","Referral to specialists for surveillance and early management","Neonatal",2,0,2,3,0,{"$f":"SUM(J154:N154)","v":7},2,null,"B"]
["CSF2RA",306250,"Surfactant metabolism dysfunction, pulmonary, 4 / Familial pulmonary alveolar proteinosis",300770,"AR","Syndromic manifestations","Childhood","Referral to specialists for surveillance and early management","Childhood",1,3,3,2,1,{"$f":"SUM(J155:N155)","v":10},1,null,"A"]
["CSF2RB",138981,"Surfactant metabolic dysfunction, pulmonary, 5 / Familial pulmonary alveolar proteinosis",614370,"AR","Syndromic manifestations","Variable","Referral to specialists for surveillance and early management","Childhood",1,3,3,2,0,{"$f":"SUM(J156:N156)","v":9},2,null,"C"]
["CSRP3",600824,"Cardiomyopathy (Hypertrophic 12, ?dilated, 1M)",612124,"AD","Arrhythmia and severe cardiac events","Adulthood","Referral to specialists for surveillance and early management","Neonatal",2,3,2,3,1,{"$f":"SUM(J157:N157)","v":11},1,null,"B"]
["CTNNA3",607667,"Arrhythmogenic right ventricular dysplasia 13",615616,"AD","Arrhythmia and severe cardiac events","Adolescent","Referral to specialists for surveillance and early management","Neonatal",2,0,2,2,0,{"$f":"SUM(J158:N158)","v":6},2]
["CTNS",606272,"Cystinosis",219800,"AR","Kidney failure","Childhood","Referral to specialists for surveillance and early management","Neonatal",2,3,3,3,3,{"$f":"SUM(J159:N159)","v":14},1,null,"A"]
["CTSA",613111,"Galactosialidosis",256540,"AR","Cardiac involvement","Childhood","Referral to specialists for surveillance and supportive care","N / A",3,2,0,0,1,{"$f":"SUM(J160:N160)","v":6},2]
["CTSD",116840,"Ceroid lipofuscinosis, neuronal, 10 (CLN10)",610127,"AR","Neurodegeneration and retinal degeneration","Infant","Referral to specialists for surveillance and supportive care","N / A",3,3,0,0,1,{"$f":"SUM(J161:N161)","v":7},2,null,"A"]
["CTSK",601105,"Pycnodysostosis",265800,"AR","Short stature","Variable","Referral to specialists for surveillance and early management","Variable",0,3,2,3,2,{"$f":"SUM(J162:N162)","v":10},2,null,"A"]
["CYP11B1",610613,"Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency",202010,"AR","Androgen excess and hypertension","Neonatal","Referral to specialists for surveillance and preemptive management","Neonatal",2,2,2,3,2,{"$f":"SUM(J163:N163)","v":11},1,null,"A"]
["CYP21A2",613815,"Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency",201910,"AR","Salt-wasting crises","Neonatal","Referral to specialists for surveillance and preemptive management ","Neonatal",2,3,3,3,3,{"$f":"SUM(J164:N164)","v":14},1,null,"A"]
["CYP27B1",609506,"Vitamin D-dependent rickets, type I",264700,"AR","Bone disease","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,3,{"$f":"SUM(J165:N165)","v":13},1,null,"A"]
["CYRL1",609877,"Nonsyndromic hearing loss","N/A","AR","Communication deficits","Neonatal","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,1,{"$f":"SUM(J166:N166)","v":11},1]
["DBT",248610,"Maple syrup urine disease, type II",248600,"AR","Syndromic manifestations","Neonatal","Referral to specialists for surveillance and dietary management ","Neonatal",2,3,2,2,3,{"$f":"SUM(J167:N167)","v":12},1,"Core","A"]
["DCLRE1C",605988,"Severe Combined Immunodeficiency, Athabascan Type",602450,"AR","Immunodeficiency - combined","Neonatal","Referral to specialists for surveillance and preemptive management ","Neonatal",3,3,3,2,2,{"$f":"SUM(J168:N168)","v":13},1,null,"A"]
["DES",125660,"Cardiomyopathy (Myopathy myofibrillar 1, dilated 1I)",601419,"Multiple and/or complex pattern","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Neonatal",2,3,2,3,2,{"$f":"SUM(J169:N169)","v":12},1,null,"A,B"]
["DFNA5",608798,"Deafness, autosomal dominant 5",600994,"AD","Communication deficits","Variable","Referral to specialists for surveillance and preemptive management","Childhood",0,3,3,3,2,{"$f":"SUM(J170:N170)","v":11},2,null,"A"]
["DFNB59 / PJVK",610219,"Non-Syndromic Deafness, Recessive",610220,"AR","Communication deficits with or without auditory neuropathy spectrum disorder","Childhood","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,1,{"$f":"SUM(J171:N171)","v":11},1,null,"A"]
["DHCR7",602858,"Smith-Lemli-Opitz syndrome",270400,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and supportive care ","Neonatal",2,3,0,0,3,{"$f":"SUM(J172:N172)","v":8},2,null,"A"]
["DIABLO",605219,"Deafness, autosomal dominant 64",614152,"AD","Communication deficits","Adolescent","Referral to specialists for surveillance and preemptive management","Adolescent",1,0,3,3,0,{"$f":"SUM(J173:N173)","v":7},2,null,"C"]
["DIAPH1",602121,"Deafness, autosomal dominant 1",124900,"AD","Communication deficits","Childhood","Referral to specialists for surveillance and preemptive management","Childhood",1,3,3,3,1,{"$f":"SUM(J174:N174)","v":11},2,null,"C"]
["DKC1",300126,"Dyskeratosis congenita, X-linked",305000,"X-linked","Bone marrow failure","Childhood","Referral to specialists for surveillance and early management","Infant",2,3,1,2,2,{"$f":"SUM(J175:N175)","v":10},2,null,"B"]
["DLD",238331,"Dihydrolipoamide dehydrogenase deficiency",246900,"AR","Mitochondrial encephalopathy and Leigh syndrome manifestations","Neonatal","Referral to specialists for surveillance and supportive care ","Neonatal",3,3,0,0,1,{"$f":"SUM(J176:N176)","v":7},2,null,"A"]
["DMD",300377,"Cardiomyopathy, Dilated, 3B",302045,"X-linked","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Neonatal",2,3,2,3,1,{"$f":"SUM(J177:N177)","v":11},2,null,"B"]
["DNAAF1",613190,"Ciliary dyskinesia, primary, 13",613193,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,2,{"$f":"SUM(J178:N178)","v":10},1,null,"A"]
["DNAAF2",612517,"Ciliary dyskinesia, primary, 10",612518,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,2,{"$f":"SUM(J179:N179)","v":10},1,null,"C"]
["DNAAF3",614566,"Ciliary Dyskinesia, Primary, 2",606763,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,1,{"$f":"SUM(J180:N180)","v":9},1,null,"C"]
["DNAAF5",614864,"Ciliary dyskinesia, primary, 18",614874,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,1,{"$f":"SUM(J181:N181)","v":9},1]
["DNAH1",603332,"?Ciliary dyskinesia, primary, 37",617577,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,0,2,2,0,{"$f":"SUM(J182:N182)","v":5},2]
["DNAH11",603339,"Ciliary dyskinesia, primary, 7, with or without situs inversus",611884,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,3,{"$f":"SUM(J183:N183)","v":11},1,null,"A"]
["DNAH5",603335,"Ciliary dyskinesia, primary, 3, with or without situs inversus",608644,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,3,{"$f":"SUM(J184:N184)","v":11},1,null,"A"]
["DNAH8",603337,"Ciliary dyskinesia, primary, 1",244400,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,0,2,2,0,{"$f":"SUM(J185:N185)","v":5},2]
["DNAI1",604366,"Ciliary dyskinesia, primary, 1, with or without situs inversus (Kartagener Syndrome)",244400,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,3,{"$f":"SUM(J186:N186)","v":11},1,null,"A"]
["DNAI2",605483,"Ciliary dyskinesia, primary, 9, with or without situs inversus",612444,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,2,{"$f":"SUM(J187:N187)","v":10},1,null,"C"]
["DNAJB13",610263,"Ciliary dyskinesia, primary, 34",617091,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,1,{"$f":"SUM(J188:N188)","v":9},1]
["DNAJC5",611203,"Ceroid lipofuscinosis, neuronal, 4, Parry type (CLN4B)",162350,"AD","Neurodegeneration and retinal degeneration","Adulthood","Referral to specialists for surveillance and supportive care","N / A",2,3,0,0,3,{"$f":"SUM(J189:N189)","v":8},4,null,"C"]
["DNAL1",610062,"Ciliary dyskinesia, primary, 16",614017,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,1,{"$f":"SUM(J190:N190)","v":9},1,null,"C"]
["DNMT3B",602900,"Immunodeficiency-centromeric instability-facial anomalies syndrome 1",242860,"AR","Immunodeficiency","Childhood","Referral to specialists for surveillance and preemptive management ","Neonatal",2,3,3,2,2,{"$f":"SUM(J191:N191)","v":12},1,null,"A"]
["DOCK8",611432,"Hyper-IgE recurrent infection syndrome, autosomal recessive",243700,"AR","Immunodeficiency - combined","Infant","Referral to specialists for surveillance and preemptive management ","Infant",1,3,3,2,2,{"$f":"SUM(J192:N192)","v":11},1,null,"A"]
["DRC1",615288,"Ciliary dyskinesia, primary, 21",615294,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,1,{"$f":"SUM(J193:N193)","v":9},1]
["DSC2",125645,"Arrhythmogenic right ventricular cardiomyopathy 11",610476,"Multiple and/or complex pattern","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Childhood",2,2,2,2,1,{"$f":"SUM(J194:N194)","v":9},1,null,"B"]
["DSG2",125671,"Cardiomyopathy (ARVC 10, Dilated, 1BB)",610193,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and preemptive management","Childhood",3,2,2,3,2,{"$f":"SUM(J195:N195)","v":12},1,null,"B"]
["DSP",125647,"Cardiomyopathy (Dilated with woolly hair and keratoderma / Arrhthmogenic Right Ventricular Cardiomyopathy 8) and related phenotypes",605676,"Multiple and/or complex pattern","Arrhythmia and severe cardiac events","Childhood-Adolescence","Referral to specialists for surveillance and early management","Childhood",2,2,2,3,3,{"$f":"SUM(J196:N196)","v":12},1,null,"B"]
["DSPP",125485,"Deafness, autosomal dominant 36, with dentinogenesis",605594,"AD","Dentinogenesis imperfecta","Infant","Referral to specialists for surveillance and supportive care","Infant",1,2,0,0,2,{"$f":"SUM(J197:N197)","v":5},2]
["DTNBP1",607145,"Hermansky-Pudlak Syndrome 7",614076,"AR","Bleeding ","Variable","Referral to specialists for surveillance and preemptive management","Neonatal",0,3,3,3,0,{"$f":"SUM(J198:N198)","v":9},4,null,"C"]
["DUOX2",606759,"Thyroid dyshormonogenesis 6",607200,"AR","Hypothyroidism","Neonatal","Referral to specialists for surveillance and preemptive management ","Neonatal",2,3,3,3,2,{"$f":"SUM(J199:N199)","v":13},1,null,"A"]
["DUOXA2",612772,"Thyroid dyshormonogenesis 5",274900,"AR","Hypothyroidism","Neonatal","Referral to specialists for surveillance and preemptive management ","Neonatal",2,3,3,3,2,{"$f":"SUM(J200:N200)","v":13},1,null,"C"]
["DYX1C1",608706,"Ciliary dyskinesia, primary, 25",615482,"AR","Syndromic manifestations","Infant","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,1,{"$f":"SUM(J201:N201)","v":9},1]
["EDN3",131242,"Waardenburg syndrome, type 4B",613265,"Multiple and/or complex pattern","Syndromic manifestations","Birth","Referral to specialists for surveillance and/or preemptive management","Neonatal",2,3,3,2,2,{"$f":"SUM(J202:N202)","v":12},1]
["EDN3",606118,"Waardenburg syndrome, type 4B (Dominant)",613265,"AD","Syndromic manifestations","Neonatal","Referral to specialists for surveillance and/or preemptive management","Neonatal",2,2,3,2,2,{"$f":"SUM(J203:N203)","v":11},1,null,"C"]
["EDN3",131242,"Central hypoventilation syndrome / Waardenburg syndrome, type 4B, {Hirschsprung disease, susceptibility to, 4}",209880,"AD","Hypoventilation","Birth","Referral to specialists for surveillance and early management","Neonatal",3,0,3,2,0,{"$f":"SUM(J204:N204)","v":8},2]
["EDNRB",131244,"Waardenburg syndrome, type 4A",277580,"Multiple and/or complex pattern","Syndromic manifestations","Birth","Referral to specialists for surveillance and/or preemptive management","Neonatal",2,3,3,2,2,{"$f":"SUM(J205:N205)","v":12},1,null,"C"]
["EDNRB",606682,"Waardenburg syndrome, type 4A (Dominant)",277580,"AD","Syndromic manifestations","Neonatal","Referral to specialists for surveillance and/or preemptive management","Neonatal",2,2,3,2,2,{"$f":"SUM(J206:N206)","v":11},1]
["EFEMP2",604633,"Cutis laxa, AR, type IB",614437,"AR","Emphysema and cutis laxa","Birth","Referral to specialists for surveillance and supportive care","N / A",2,3,0,0,2,{"$f":"SUM(J207:N207)","v":7},2,null,"C"]
["ELMOD2",610196,"Pulmonary Fibrosis",610196,"AD","Pulmonary fibrosis and pneumonia","Adulthood","Referral to specialists for surveillance and supportive care","N / A",2,0,0,0,0,{"$f":"SUM(J208:N208)","v":2},4]
["ELN",130160,"Cutis Laxa, AD 1 / Supravalvar aortic stenosis",185500,"AD","Heart failure","Childhood","Referral to specialists for surveillance and early management","Neonatal",2,3,3,3,2,{"$f":"SUM(J209:N209)","v":13},1,null,"A"]
["ELN",130160,"Cutis Laxa, AD 1 ",123700,"AD","Cutis laxa","Birth","Referral to specialists for surveillance and supportive care","N / A",1,3,0,0,2,{"$f":"SUM(J210:N210)","v":6},2]
["ENG",131195,"Telangiectasia, hereditary hemorrhagic, type 1",187300,"AD","Syndromic manifestations","Variable","Referral to specialists for surveillance and early management","Infant",2,2,2,3,3,{"$f":"SUM(J211:N211)","v":12},1,null,"A"]
["EPCAM",185535,"Colorectal cancer, hereditary nonpolyposis, type 8",613244,"Multiple and/or complex pattern","Hereditary cancer predisposition","Adulthood","Referral to specialists for surveillance and/or preemptive management","Adulthood",2,3,3,2,3,{"$f":"SUM(J212:N212)","v":13},3,null,"C"]
["ERCC4",133520,"Fanconi anemia, complementation group Q",615272,"AR","Bone marrow dysfunction and multi-system disease","Childhood","Referral to specialists for surveillance and early management","Infant",2,3,2,2,0,{"$f":"SUM(J213:N213)","v":9},2]
["ESPN",606351,"Deafness, autosomal recessive 36",609006,"AR","Communication deficits with or without vestibular involvement","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,1,{"$f":"SUM(J214:N214)","v":11},1,null,"C"]
["ESPN",606351,"Deafness, neurosensory, without vestibular involvement, autosomal dominant",609006,"AD","Communication deficits without vestibular involvement","Variable","Referral to specialists for surveillance and preemptive management","Variable",1,0,3,3,0,{"$f":"SUM(J215:N215)","v":7},2]
["ESRRB",602167,"Non-Syndromic Deafness, Recessive 35",608565,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,1,{"$f":"SUM(J216:N216)","v":11},1,null,"A"]
["ETFA",608053,"Glutaric acidemia IIA",231680,"AR","Metabolic crisis","Neonatal","Referral to specialists for surveillance and preemptive management ","Neonatal",2,2,2,3,3,{"$f":"SUM(J217:N217)","v":12},1,"Secondary","A"]
["ETFA",608053,"Glutaric acidemia IIA (severe forms)",231680,"AR","Hypoglycemia and neonatal acidosis ","Neonatal","Referral to specialists for surveillance and supportive care","N / A",3,3,0,0,3,{"$f":"SUM(J218:N218)","v":9},2,"Secondary"]
["ETFB",130410,"Glutaric acidemia IIB",231680,"AR","Metabolic crisis","Neonatal","Referral to specialists for surveillance and preemptive management ","Neonatal",2,2,2,3,3,{"$f":"SUM(J219:N219)","v":12},1,"Secondary","A"]
["ETFB",130410,"Glutaric acidemia IIB (severe forms)",231680,"AR","Hypoglycemia and neonatal acidosis ","Neonatal","Referral to specialists for surveillance and supportive care","N / A",3,3,0,0,3,{"$f":"SUM(J220:N220)","v":9},2,"Secondary"]
["ETFDH",231675,"Glutaric acidemia IIC",231680,"AR","Metabolic crisis","Neonatal","Referral to specialists for surveillance and preemptive management ","Neonatal",2,2,2,3,3,{"$f":"SUM(J221:N221)","v":12},1,"Secondary","A"]
["ETFDH",231675,"Glutaric acidemia IIC (severe forms)",231680,"AR","Hypoglycemia and neonatal acidosis ","Neonatal","Referral to specialists for surveillance and supportive care","N / A",3,3,0,0,3,{"$f":"SUM(J222:N222)","v":9},2,"Secondary"]
["ETFDH",231675,"Coenzyme Q10 Deficiency, secondary","N/A","AR","Myopathy - isolated","Adolescent","Referral to specialists for surveillance and preemptive management ","Adolescent",1,3,3,3,1,{"$f":"SUM(J223:N223)","v":11},1]
["EYA1",601653,"Branchiootorenal syndrome 1, with or w/o cataracts / Anterior segment anomalies with or w/o cataracts",113650,"AD","Syndromic manifestations","Variable","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,2,3,2,{"$f":"SUM(J224:N224)","v":11},1,null,"A"]
["EYA4",603550,"Non-Syndromic Deafness, Dominant 10",601316,"AD","Communication deficits","Adulthood","Referral to specialists for surveillance and preemptive management","Childhood",1,3,3,3,1,{"$f":"SUM(J225:N225)","v":11},3,null,"A"]
["EYA4",603550,"Cardiomyopathy, dilated, 1J",605362,"AD","Arrhythmia and severe cardiac events","Adulthood","Referral to specialists for surveillance and early management","Neonatal",2,0,2,3,0,{"$f":"SUM(J226:N226)","v":7},2]
["F10",613872,"Factor X deficiency",227600,"AR","Bleeding","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,3,{"$f":"SUM(J227:N227)","v":13},1]
["F11",264900,"Factor XI deficiency, autosomal recessive",612416,"Multiple and/or complex pattern","Bleeding","Variable","Referral to specialists for surveillance and preemptive management","Variable",0,3,3,3,2,{"$f":"SUM(J228:N228)","v":11},1,null,"A"]
["F11",264900,"Factor XI deficiency, autosomal dominant",612416,"AD","Bleeding","Variable","Referral to specialists for surveillance and preemptive management","Neonatal",0,1,3,2,1,{"$f":"SUM(J229:N229)","v":7},2]
["F12",610619,"Factor XII deficiency",234000,"AR","Clotting","Variable","Referral to specialists for surveillance and supportive care","N / A",0,0,0,0,1,{"$f":"SUM(J230:N230)","v":1},4]
["F12",610619,"Angioedema, hereditary, type III",610618,"AD","Swelling and respiratory compromise","Variable","Referral to specialists for surveillance and preemptive management ","Variable",2,2,2,3,1,{"$f":"SUM(J231:N231)","v":10},1]
["F13A1",134570,"Factor XIIIA deficiency",613225,"AR","Intracranial hemorrhage","Infant","Referral to specialists for surveillance and early management","Neonatal",2,2,3,3,2,{"$f":"SUM(J232:N232)","v":12},1]
["F13B",134580,"Factor XIIIB deficiency",613235,"AR","Intracranial hemorrhage","Neonatal","Referral to specialists for surveillance and early management","Neonatal",2,2,3,3,2,{"$f":"SUM(J233:N233)","v":12},1]
["F2",176930,"Prothrombin Deficiency, congenital (Dysprothrombinemia, Hypoprothrombinemia)",613679,"AR","Intracranial hemorrhage","Birth","Referral to specialists for surveillance and early management","Neonatal",2,2,3,3,2,{"$f":"SUM(J234:N234)","v":12},1,null,"A"]
["F5",612309,"Factor V deficiency",227400,"AR","Bleeding","Infant","Referral to specialists for surveillance and preemptive management","Infant",1,3,3,3,2,{"$f":"SUM(J235:N235)","v":12},1]
["F5",612309,"Thrombophilia due to activated protein C resistance (Homozygote)",188055,"AD","Thrombosis","Adulthood","Referral to specialists for surveillance and preemptive management ","Childhood",2,3,2,3,2,{"$f":"SUM(J236:N236)","v":12},1,null,"C"]
["F7",613878,"Factor VII deficiency",227500,"AR","Bleeding","Infant","Referral to specialists for surveillance and preemptive management","Infant",2,2,3,3,3,{"$f":"SUM(J237:N237)","v":13},1]
["F8",300841,"Hemophilia A",306700,"X-linked","Bleeding ","Infant","Referral to specialists for surveillance and preemptive management","Infant",2,3,3,3,3,{"$f":"SUM(J238:N238)","v":14},1,null,"A"]
["F9",300746,"Hemophilia B",306900,"X-linked","Bleeding ","Infant","Referral to specialists for surveillance and preemptive management","Infant",2,3,3,3,3,{"$f":"SUM(J239:N239)","v":14},1,null,"A"]
["F9",300746,"Thrombophilia, X-linked, due to factor IX defect",300807,"X-linked","Deep vein thrombosis","Variable","Referral to specialists for surveillance and preemptive management ","Neonatal",2,0,2,3,1,{"$f":"SUM(J240:N240)","v":8},2]
["FAH",613871,"Tyrosinemia, type I",276700,"AR","Liver failure and hepatocellular carcinoma","Infant","Referral to specialists for surveillance and early management","Neonatal",2,3,3,2,3,{"$f":"SUM(J241:N241)","v":13},1,"Core","A"]
["FANCA",607139,"Fanconi anemia, complementation group A",227650,"AR","Bone marrow dysfunction and multi-system disease","Childhood","Referral to specialists for surveillance and early management","Infant",2,3,2,2,3,{"$f":"SUM(J242:N242)","v":12},1,null,"A"]
["FANCB",300515,"Fanconi anemia, complementation group B",300514,"X-linked","Bone marrow dysfunction and multi-system disease","Childhood","Referral to specialists for surveillance and early management","Infant",2,3,2,2,2,{"$f":"SUM(J243:N243)","v":11},1,null,"A"]
["FANCC",613899,"Fanconi anemia, complementation group C",227645,"AR","Bone marrow dysfunction and multi-system disease","Childhood","Referral to specialists for surveillance and early management","Infant",2,3,2,2,3,{"$f":"SUM(J244:N244)","v":12},1,null,"A"]
["FANCD2",613984,"Fanconi anemia, complementation group D2",227646,"AR","Bone marrow dysfunction and multi-system disease","Childhood","Referral to specialists for surveillance and early management","Infant",2,3,2,2,2,{"$f":"SUM(J245:N245)","v":11},1,null,"A"]
["FANCE",613976,"Fanconi anemia, complementation group E",600901,"AR","Bone marrow dysfunction and multi-system disease","Childhood","Referral to specialists for surveillance and early management","Infant",2,3,2,2,2,{"$f":"SUM(J246:N246)","v":11},1,null,"C"]
["FANCF",613897,"Fanconi anemia, complementation group F",603467,"AR","Bone marrow dysfunction and multi-system disease","Childhood","Referral to specialists for surveillance and early management","Infant",2,3,2,2,2,{"$f":"SUM(J247:N247)","v":11},1,null,"C"]
["FANCG",602956,"Fanconi anemia, complementation group G",614082,"AR","Bone marrow dysfunction and multi-system disease","Childhood","Referral to specialists for surveillance and early management","Infant",2,3,2,2,3,{"$f":"SUM(J248:N248)","v":12},1,null,"A"]
["FANCI",611360,"Fanconi anemia, complementation group I",609053,"AR","Bone marrow dysfunction and multi-system disease","Childhood","Referral to specialists for surveillance and early management","Infant",2,3,2,2,2,{"$f":"SUM(J249:N249)","v":11},1,null,"A"]
["FANCL",608111,"Fanconi anemia, complementation group L",614083,"AR","Bone marrow dysfunction and multi-system disease","Childhood","Referral to specialists for surveillance and early management","Infant",2,3,2,2,1,{"$f":"SUM(J250:N250)","v":10},1,null,"C"]
["FANCM",609644,"Fanconi-Anemia-Associated Polypeptide","N/A","AR","Bone marrow dysfunction and multi-system disease","Childhood","Referral to specialists for surveillance and early management","Infant",2,3,2,2,0,{"$f":"SUM(J251:N251)","v":9},2,null,"C"]
["FBLN5",604580,"Cutis laxa, AR, type IA",219100,"AR","Syndromic manifestations","Childhood","Referral to specialists for surveillance and supportive care","Neonatal",2,3,0,0,2,{"$f":"SUM(J252:N252)","v":7},2,null,"A"]
["FBN1",134797,"Marfan syndrome and other aortopathy syndromes",154700,"AD","Aortic dissection","Variable","Referral to specialists for surveillance and early management","Neonatal",2,3,2,3,3,{"$f":"SUM(J253:N253)","v":13},1,null,"A"]
["FBP1",611570,"Fructose bisphosphatase deficiency",229700,"AR","Hypoglycemia and metabolic acidosis","Neonatal","Referral to specialists for surveillance and dietary management","Neonatal",2,3,3,3,2,{"$f":"SUM(J254:N254)","v":13},1]
["FGF3",164950,"Deafness, congenital with inner ear agenesis, microtia, and microdontia",610706,"AR","Communication deficits","Neonatal","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,2,{"$f":"SUM(J255:N255)","v":12},1,null,"A"]
["FGFR3",134934,"CATSHL syndrome",610474,"Multiple and/or complex pattern","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,1,{"$f":"SUM(J256:N256)","v":11},2,null,"C"]
["FGFR3",134934,"Muenke syndrome",602849,"AD","Craniosynostosis","Neonatal","Referral to specialists for surveillance and early management","Infant",1,3,3,2,3,{"$f":"SUM(J257:N257)","v":12},1,null,"A"]
["FH",136850,"Fumarase deficiency",606812,"AR","Syndromic manifestations","Neonatal","Referral to specialists for surveillance and supportive care","N / A",2,3,0,0,2,{"$f":"SUM(J258:N258)","v":7},2,null,"A"]
["FH (Dominant)",136850,"Leiomyomatosis and renal cell cancer",150800,"AD","Renal cancer","Adulthood","Referral to specialists for surveillance and/or preemptive management","Adulthood",2,2,2,3,2,{"$f":"SUM(J259:N259)","v":11},3,null,"C"]
["FKTN",607440,"Cardiomyopathy, dilated, 1X",611615,"AR","Arrhythmia and severe cardiac events","Infant","Referral to specialists for surveillance and early management","Neonatal",2,3,0,0,2,{"$f":"SUM(J260:N260)","v":7},2]
["FLCN",607273,"Birt-Hogg-Dube syndrome",135150,"AD","Renal cancer","Adulthood","Referral to specialists for surveillance and/or preemptive management","Adulthood",1,2,2,3,2,{"$f":"SUM(J261:N261)","v":10},4,null,"A"]
["FOLR1",136430,"Neurodegeneration due to cerebral folate transport deficiency",613068,"AR","Neurodegeneration","Childhood","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,1,{"$f":"SUM(J262:N262)","v":11},1]
["FOXE1",602617,"Bamforth-Lazarus syndrome",241850,"AR","Hypothyroidism","Birth","Referral to specialists for surveillance and preemptive management ","Neonatal",2,3,2,3,1,{"$f":"SUM(J263:N263)","v":11},1,null,"C"]
["FOXF1",601089,"Alveolar capillary dysplasia with misalignment of pulmonary veins",265380,"AD","Pulmonary hypertension and congenital alveolar capillary dysplasia","Birth","Referral to specialists for surveillance and supportive care","N / A",3,3,0,0,3,{"$f":"SUM(J264:N264)","v":9},2,null,"A"]
["FUCA1",612280,"Fucosidosis",230000,"AR","Neurodegeneration and psychomotor impairment","Infant","Referral to specialists for surveillance and early management","Neonatal",2,3,2,1,2,{"$f":"SUM(J265:N265)","v":10},2,null,"A"]
["G6PC",613742,"Glycogen Storage Disease 1a",232200,"AR","Severe hypoglycemia","Infant","Referral to specialists for surveillance and dietary management","Neonatal",2,3,3,2,3,{"$f":"SUM(J266:N266)","v":13},1,null,"A"]
["G6PD",305900,"Hemolytic  anemia due to G6PD deficiency",300908,"X-linked","Hemolytic anemia","Variable","Referral to specialists for surveillance and preemptive management","Neonatal",1,2,3,3,3,{"$f":"SUM(J267:N267)","v":12},1,null,"A"]
["GAA",606800,"Glycogen storage disease II (GSD2)",232300,"AR","Syndromic manifestations","Infant","Referral to specialists for surveillance and early management","Infant",3,3,3,2,3,{"$f":"SUM(J268:N268)","v":14},1,"Core","A"]
["GALC",606890,"Krabbe Disease",245200,"AR","Neurodegeneration","Birth","Referral to specialists for surveillance and supportive care","N / A",3,3,0,0,3,{"$f":"SUM(J269:N269)","v":9},2,null,"A"]
["GALE",606953,"Galactose epimerase deficiency",230350,"AR","Galactosemia","Infant","Referral to specialists for surveillance and dietary management","Neonatal",1,0,2,2,1,{"$f":"SUM(J270:N270)","v":6},2,"Secondary"]
["GALK1",604313,"Galactokinase Deficiency with Cataracts",230200,"AR","Vision impairment","Infant","Referral to specialists for surveillance and dietary management","Neonatal",1,3,3,3,3,{"$f":"SUM(J271:N271)","v":13},1,"Secondary","A"]
["GALNS",612222,"Mucopolysaccharidosis IVA",253000,"AR","Skeletal abnormalities","Infant","Referral to specialists for surveillance and early management","Neonatal",1,3,1,2,2,{"$f":"SUM(J272:N272)","v":9},1,null,"A"]
["GALT",606999,"Galactosemia  ",230400,"AR","Liver failure or E. coli sepsis","Infant","Referral to specialists for surveillance and dietary management","Neonatal",2,3,3,2,3,{"$f":"SUM(J273:N273)","v":13},1,"Core","A"]
["GAMT",601240,"Cerebral creatine deficiency syndrome 2; Guanidinoacetate methyltransferase deficiency",612736,"AR","Encephalopathy","Infant","Referral to specialists for surveillance and preemptive management ","Infant",1,3,2,3,1,{"$f":"SUM(J274:N274)","v":10},1]
["GAS8",605178,"Ciliary dyskinesia, primary, 33",616726,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,1,{"$f":"SUM(J275:N275)","v":9},1]
["GATA1",305371,"Anemia, with or without neutropenia and/or platelet abnormalities",300835,"X-linked","Anemia","Infant","Referral to specialists for surveillance and early management","Infant",1,3,2,3,1,{"$f":"SUM(J276:N276)","v":10},1,null,"A"]
["GATA2",137295,"Immunodeficiency 21",137295,"AD","Immunodeficiency and myeloid malignancies","Infant","Referral to specialists for surveillance and preemptive management ","Infant",2,3,3,2,2,{"$f":"SUM(J277:N277)","v":12},1]
["GATA3",131320,"Hypoparathyroidism, sensorineural deafness, and renal dysplasia",146255,"AD","Syndromic manifestations","Variable","Referral to specialists for surveillance and preemptive management","Variable",1,3,3,3,2,{"$f":"SUM(J278:N278)","v":12},1]
["GATAD1",614518,"?Cardiomyopathy, dilated, 2B",614672,"AR","Arrhythmia and severe cardiac events","Adulthood","Referral to specialists for surveillance and early management","Neonatal",2,0,2,3,0,{"$f":"SUM(J279:N279)","v":7},2,null,"C"]
["GATM",602360,"Cerebral creatine deficiency syndrome 3; L-arginine:glycine amidinotransferase deficiency",612718,"AR","Encephalopathy","Infant","Referral to specialists for surveillance and preemptive management ","Infant",1,3,2,3,1,{"$f":"SUM(J280:N280)","v":10},1]
["GBA",606463,"Gaucher Disease, Type I",230800,"AR","Syndromic manifestations","Childhood","Referral to specialists for surveillance and preemptive management ","Childhood",1,3,3,3,3,{"$f":"SUM(J281:N281)","v":13},1,null,"A"]
["GBA",606463,"Gaucher Disease, all other types (perinatal lethal, type II, type III, type IIIC)",230800,"AR","Neurodegeneration","Infant","Referral to specialists for surveillance and supportive care","N / A",3,3,0,0,3,{"$f":"SUM(J282:N282)","v":9},2]
["GBE1",607839,"Glycogen Storage Disease IV ",232500,"AR","Neurodegeration and psychomotor impairment","Neonatal","Referral to specialists for surveillance and supportive care","N / A",3,3,0,0,2,{"$f":"SUM(J283:N283)","v":8},2,null,"A"]
["GCDH",608801,"Glutaricaciduria, type I",231670,"AR","Metabolic crisis","Variable","Referral to specialists for surveillance and dietary management","Neonatal",2,3,2,3,3,{"$f":"SUM(J284:N284)","v":13},1,"Core","A"]
["GCH1",600225,"GTPCH1 deficiency (biopterin deficiency)",233910,"AR","Neurologic involvement","Infant","Referral to specialists for surveillance and dietary management","Neonatal",1,3,3,3,1,{"$f":"SUM(J285:N285)","v":11},1,"Secondary"]
["GCH1",600225,"Dystonia, DOPA-responsive, with or without hyperphenylalaninemia",128230,"AD","Dystonia","Childhood","Referral to specialists for surveillance and preemptive management ","Childhood",1,3,3,3,3,{"$f":"SUM(J286:N286)","v":13},1,null,"B"]
["GCK",138079,"Diabetes mellitus, permanent neonatal ",606176,"AR","Hyperglycemia","Neonatal","Referral to specialists for surveillance and preemptive management","Neonatal",2,3,3,3,2,{"$f":"SUM(J287:N287)","v":13},1]
["GCK",138079,"MODY, type II (MODY2)",125851,"AD","Diabetes mellitus","Childhood","Referral to specialists for surveillance and preemptive management ","Childhood",0,3,0,0,3,{"$f":"SUM(J288:N288)","v":6},2]
["GDF2",605120,"Telangiectasia, hereditary hemorrhagic, type 5",615506,"AD","Syndromic manifestations","Variable","Referral to specialists for surveillance and early management","Childhood",2,0,2,2,0,{"$f":"SUM(J289:N289)","v":6},2]
["GDNF",600837,"Central hypoventilation syndrome",209880,"AD","Hypoventilation","Birth","Referral to specialists for surveillance and early management","Neonatal",3,0,3,2,0,{"$f":"SUM(J290:N290)","v":8},2,null,"C"]
["GGCX",137167,"Vitamin K-dependent coagulation defect",277450,"AR","Bleeding","Neonatal","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,1,{"$f":"SUM(J291:N291)","v":11},1]
["GH1",139250,"Growth hormone deficiency, isolated, type IA (recessive)",262400,"AR","Postnatal growth hormone deficiency and hypoglycemia","Infant","Referral to specialists for surveillance and early management","Neonatal",1,3,2,3,3,{"$f":"SUM(J292:N292)","v":12},1]
["GH1",139250,"Growth hormone deficiency, isolated, type IA (dominant)",173100,"AD","Postnatal growth hormone deficiency and hypoglycemia","Infant","Referral to specialists for surveillance and early management","Neonatal",1,3,2,3,3,{"$f":"SUM(J293:N293)","v":12},1]
["GIF",609342,"Intrinsic factor deficiency",261000,"AR","Pernicious anemia","Childhood","Referral to specialists for surveillance and preemptive management ","Neonatal",2,3,3,3,2,{"$f":"SUM(J294:N294)","v":13},1]
["GIPC3",608792,"Deafness, Autosomal Recessive 15",601869,"AR","Communication deficits","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,2,{"$f":"SUM(J295:N295)","v":12},1,null,"A"]
["GJA5",121013,"Atrial fibrillation, familial, 11",614049,"AD","Arrhythmia and severe cardiac events","Adulthood","Referral to specialists for surveillance and early management","Childhood",2,3,2,2,2,{"$f":"SUM(J296:N296)","v":11},3,null,"B"]
["GJB2",121011,"Deafness, autosomal recessive 1A (DFNB1A)",220290,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,3,{"$f":"SUM(J297:N297)","v":13},1,null,"A"]
["GJB2",121011,"GJB2-related hearing loss and related disorders",148210,"AD","Communication deficits with or without vision loss","Adulthood","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,3,{"$f":"SUM(J298:N298)","v":13},1,null,"A"]
["GJB6",604418,"Non-Syndromic Deafness, Recessive 1B",612645,"AR","Communication deficits","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,2,{"$f":"SUM(J299:N299)","v":12},1]
["GLA",300644,"Fabry Disease",301500,"X-linked","Syndromic manifestations","Variable","Referral to specialists for surveillance and preemptive management ","Childhood",2,3,2,2,3,{"$f":"SUM(J300:N300)","v":12},1,null,"A"]
["GLB1",611458,"Beta-galactosidase-1 deficiency GLB1 deficiency",230500,"AR","Skeletal dysplasia","Childhood","Referral to specialists for surveillance and supportive care","N / A",1,3,0,0,3,{"$f":"SUM(J301:N301)","v":7},2,null,"A"]
["GM2A",613109,"GM2-gangliosidosis, AB variant",272750,"AR","Neurodegeneration","Infant","Referral to specialists for surveillance and supportive care","N / A",3,3,0,0,1,{"$f":"SUM(J302:N302)","v":7},2]
["GNMT",606628,"Glycine N-Methyltransferase Deficiency ",606664,"AR","Hypermethioninemia","Childhood","Referral to specialists for surveillance and dietary management","Infant",0,3,0,0,0,{"$f":"SUM(J303:N303)","v":3},2,"Secondary"]
["GNPTAB",607840,"Mucolipidosis II (I-cell disease)",252500,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and supportive care","N / A",2,3,0,0,2,{"$f":"SUM(J304:N304)","v":7},2,null,"A"]
["GNPTG",607838,"Mucolipidosis III Gamma",252605,"AR","Skeletal abnormalities","Childhood","Referral to specialists for surveillance and supportive care","N / A",1,3,0,0,2,{"$f":"SUM(J305:N305)","v":6},2,null,"A"]
["GNS",607664,"Mucopolysaccharidosis type IIID",252940,"AR","Respiratory distress","Childhood","Referral to specialists for surveillance and supportive care","N / A",2,3,0,0,2,{"$f":"SUM(J306:N306)","v":7},2,null,"A"]
["GP1BA",606672,"Bernard-Soulier Syndrome, type A1",231200,"AR","Bleeding","Variable","Referral to specialists for surveillance and preemptive management","Neonatal",0,3,3,3,2,{"$f":"SUM(J307:N307)","v":11},2]
["GP1BA",606672,"Pseudo - von Willebrand disease, platelet-type",177820,"AD","Thrombocytopenia and bleeding","Birth","Referral to specialists for surveillance and preemptive management ","Neonatal",0,3,3,3,2,{"$f":"SUM(J308:N308)","v":11},2]
["GP1BA",606672,"Bernard-Soulier Syndome, type A2",153670,"AD","Bleeding","Variable","Referral to specialists for surveillance and preemptive management","Neonatal",0,0,3,3,0,{"$f":"SUM(J309:N309)","v":6},2]
["GP1BB",138720,"Bernard-Soulier Syndrome, type B",231200,"AR","Bleeding","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",0,3,3,3,2,{"$f":"SUM(J310:N310)","v":11},1]
["GP6",605546,"Bleeding disorder, platelet-type, 11",614201,"AR","Bleeding","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,1,{"$f":"SUM(J311:N311)","v":11},1]
["GP9",173515,"Bernard-Soulier Syndrome, type C",231200,"AR","Bleeding","Variable","Referral to specialists for surveillance and preemptive management","Neonatal",0,3,3,3,2,{"$f":"SUM(J312:N312)","v":11},1]
["GPD1L",611778,"Brugada Syndrome 2",611777,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Neonatal",2,2,2,2,1,{"$f":"SUM(J313:N313)","v":9},1,null,"B"]
["GPSM2",609245,"Chudley-McCullough Syndrome",604213,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,2,{"$f":"SUM(J314:N314)","v":12},1,null,"A"]
["GRHL2",608576,"Ectodermal dysplasia/short stature syndrome",616029,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,2,3,3,0,{"$f":"SUM(J315:N315)","v":9},2]
["GRHL2",608576,"Deafness, autosomal dominant 28",608641,"AD","Communication deficits","Variable","Referral to specialists for surveillance and preemptive management","Variable",0,3,3,3,1,{"$f":"SUM(J316:N316)","v":10},2,null,"C"]
["GRXCR1",613283,"Deafness, autosomal recessive 25",613285,"AR","Communication deficits with or without vestibular involvement","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,2,{"$f":"SUM(J317:N317)","v":12},1,null,"C"]
["GSS",601002,"Glutathione Synthetase Deficiency ",266130,"AR","Syndromic manifestations","Variable","Referral to specialists for surveillance and preemptive management ","Neonatal",2,2,2,3,1,{"$f":"SUM(J318:N318)","v":10},1,null,"A"]
["GUSB",611499,"Mucopolysaccharidosis VII",253220,"AR","Syndromic manifestations","Childhood","Referral to specialists for surveillance and early management","Infant",2,3,2,1,1,{"$f":"SUM(J319:N319)","v":9},2,null,"A"]
["GYS1",138570,"Glycogen storage disease 0, muscle",611556,"AR","Left ventricular hypertrophy and cardiac arrest","Childhood","Referral to specialists for surveillance and supportive care","N / A",3,0,0,0,0,{"$f":"SUM(J320:N320)","v":3},2]
["GYS2",138571,"Glycogen Storage Disease, type 0",240600,"AR","Hypoglycemia","Infant","Referral to specialists for surveillance and dietary management","Neonatal",1,3,3,3,1,{"$f":"SUM(J321:N321)","v":11},1,null,"A"]
["HADH",601609,"3-Hydroxyacyl-CoA Dehydrogenase Deficiency ",231530,"AR","Hypoglycemia - profound","Infant","Referral to specialists for surveillance and dietary management","Neonatal",2,3,3,3,2,{"$f":"SUM(J322:N322)","v":13},1,"Secondary","C"]
["HADHA",600890,"LCHAD deficiency ",609016,"AR","Hypoglycemic crises","Neonatal","Referral to specialists for surveillance and dietary management","Neonatal",3,3,3,3,3,{"$f":"SUM(J323:N323)","v":15},1,"Core"]
["HADHA",600890,"Trifunctional protein deficiency ",609015,"AR","Syndromic manifestations","Neonatal","Referral to specialists for surveillance and dietary management","Neonatal",3,0,1,2,1,{"$f":"SUM(J324:N324)","v":7},2,null,"A"]
["HADHB",143450,"Trifunctional protein deficiency ",609015,"AR","Syndromic manifestations","Neonatal","Referral to specialists for surveillance and dietary management","Neonatal",3,3,2,3,2,{"$f":"SUM(J325:N325)","v":13},1,"Core","A"]
["HAMP",606464,"Hemochromatosis, type 2B",613313,"AR","Iron overload","Adolescent","Referral to specialists for surveillance and preemptive management","Adolescent",2,3,3,3,2,{"$f":"SUM(J326:N326)","v":13},1,null,"C"]
["HARS",142810,"Usher Syndrome, type 3B",614504,"AR","Syndromic manifestations","Infant","Referral to specialists for surveillance and preemptive management","Infant",1,3,2,3,1,{"$f":"SUM(J327:N327)","v":10},2,null,"B"]
["HARS2",600783,"Perrault Syndrome 2",614926,"AR","Communication deficits","Variable","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,0,{"$f":"SUM(J328:N328)","v":10},2,null,"C"]
["HBB",141900,"Hb S/C","N/A","Multiple and/or complex pattern","Sickle cell anemia","Neonatal","Referral to specialists for surveillance and preemptive management","Neonatal",2,2,3,3,3,{"$f":"SUM(J329:N329)","v":13},1]
["HBB",141900,"Thalassemias, beta- (Major, AR)",613985,"AR","Anemia","Infant","Referral to specialists for surveillance and early management","Infant",2,3,3,2,3,{"$f":"SUM(J330:N330)","v":13},1,null,"A"]
["HBB",141900,"Sickle cell anemia",603903,"AR","Sickle cell anemia manifestations","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",2,2,2,3,3,{"$f":"SUM(J331:N331)","v":12},1]
["HBG2",142250,"Cyanosis, transient neonatal",613977,"AD","Anemia and cyanosis","Birth","Referral to specialists for surveillance and early management","Neonatal",0,3,3,3,2,{"$f":"SUM(J332:N332)","v":11},1]
["HCN4",605206,"Brugada Syndrome 8",613123,"AD","Arrhythmia and severe cardiac events","Adulthood","Referral to specialists for surveillance and early management","Neonatal",2,0,2,2,0,{"$f":"SUM(J333:N333)","v":6},2,null,"C"]
["HEXA",606869,"Tay-Sachs Disease",272800,"AR","Psychomotor degeneration","Infant","Referral to specialists for surveillance and supportive care","N / A",3,3,0,0,3,{"$f":"SUM(J334:N334)","v":9},2,null,"A"]
["HEXB",268800,"Sandhoff Disease",606873,"AR","Syndromic manifestations","Infant","Referral to specialists for surveillance and supportive care","N / A",3,3,0,0,3,{"$f":"SUM(J335:N335)","v":9},2,null,"A"]
["HFE - C282Y / H63D",613609,"Hereditary hemochromatosis C282Y / H63D Compound Hets","N/A","AR","Iron overload (heart, liver)","Adulthood","Referral to specialists for surveillance and preemptive management","Adulthood",1,1,3,3,3,{"$f":"SUM(J336:N336)","v":11},3]
["HFE - C282Y homozygous",613609,"Hereditary hemochromatosis",235200,"AR","Iron overload","Adulthood","Referral to specialists for surveillance and preemptive management","Adulthood",1,2,3,3,3,{"$f":"SUM(J337:N337)","v":12},3,null,"C"]
["HFE2",608374,"Hemochromatosis, type 2A",602390,"AR","Iron overload","Adolescent","Referral to specialists for surveillance and preemptive management","Adolescent",2,3,3,3,3,{"$f":"SUM(J338:N338)","v":14},1,null,"C"]
["HGD",607474,"Alkaptonuria",203500,"AR","Arthritis","Adulthood","Referral to specialists for surveillance and supportive care","Adulthood",1,3,0,0,3,{"$f":"SUM(J339:N339)","v":7},4,null,"A"]
["HGF",142409,"Deafness, autosomal recessive 39",608265,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,1,{"$f":"SUM(J340:N340)","v":11},1,null,"C"]
["HGSNAT",610453,"Mucopolysaccharidosis type IIIC ",252930,"AR","Neurodegeneration","Childhood","Referral to specialists for surveillance and supportive care","N / A",2,3,0,0,2,{"$f":"SUM(J341:N341)","v":7},2,null,"A"]
["HLCS",609018,"Holocarboxylase synthetase deficiency",253270,"AR","Seizures","Neonatal","Referral to specialists for surveillance and preemptive management ","Neonatal",2,3,3,3,2,{"$f":"SUM(J342:N342)","v":13},1,"Core","A"]
["HMGCL",613898,"HMG-CoA lyase deficiency",246450,"AR","Hypoglycemia - severe","Infant","Referral to specialists for surveillance and dietary management","Neonatal",2,3,2,2,2,{"$f":"SUM(J343:N343)","v":11},1,null,"A"]
["HMGCS2",600234,"HMG-CoA synthase-2 deficiency",605911,"AR","Hypoketotic hypoglycemic","Infant","Referral to specialists for surveillance and dietary management","Infant",2,3,3,3,1,{"$f":"SUM(J344:N344)","v":12},1,"Core"]
["HNF1A",142410,"MODY, type III (MODY3)",600496,"AD","Diabetes mellitus and hyperglycemia","Childhood-Adolescence","Referral to specialists for surveillance and preemptive management ","Childhood",1,3,2,3,3,{"$f":"SUM(J345:N345)","v":12},1]
["HNF1B",189907,"Renal cysts and diabetes syndrome  (MODY5)",137920,"AD","Diabetes mellitus and renal cysts","Childhood","Referral to specialists for surveillance and preemptive management ","Childhood",1,3,1,2,2,{"$f":"SUM(J346:N346)","v":9},2,null,"C"]
["HNF4A",600281,"MODY, type I (MODY1)",125850,"AD","Diabetes mellitus","Childhood-Adult","Referral to specialists for surveillance and preemptive management ","Childhood",1,3,2,3,2,{"$f":"SUM(J347:N347)","v":11},1]
["HPD",609695,"Tyrosinemia, type III",276710,"AR","Intellectual disability and psychomotor degeneration","Neonatal","Referral to specialists for surveillance and dietary management","Neonatal",1,0,1,2,0,{"$f":"SUM(J348:N348)","v":4},2,"Secondary","C"]
["HPS1",604982,"Hermansky-Pudlak syndrome 1",203300,"AR","Syndromic manifestations","Childhood","Referral to specialists for surveillance and early management","Neonatal",1,3,3,3,3,{"$f":"SUM(J349:N349)","v":13},1,null,"A"]
["HPS3",606118,"Hermansky-Pudlak Syndrome 3",614072,"AR","Syndromic manifestations","Childhood","Referral to specialists for surveillance and early management","Neonatal",0,3,3,3,2,{"$f":"SUM(J350:N350)","v":11},1,null,"A"]
["HPS4",606882,"Hermansky-Pudlak Syndrome 4",614073,"AR","Syndromic manifestations","Childhood","Referral to specialists for surveillance and early management","Neonatal",1,3,3,3,3,{"$f":"SUM(J351:N351)","v":13},1,null,"A"]
["HPS5",607521,"Hermansky-Pudlak syndrome 5",614074,"AR","Bleeding","Childhood","Referral to specialists for surveillance and preemptive management","Neonatal",0,3,3,3,1,{"$f":"SUM(J352:N352)","v":10},2,null,"A"]
["HPS6",607522,"Hermansky-Pudlak syndrome 6",614075,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",0,3,3,3,1,{"$f":"SUM(J353:N353)","v":10},2,null,"C"]
["HRAS",190020,"Costello syndrome (pulmonary hypertension, pneumothorax, pulmonary fibrosis, & broncho/tracheo‐malacia)",218040,"AD","Cardiomyopathy","Variable","Referral to specialists for surveillance and early management","Neonatal",2,3,2,2,3,{"$f":"SUM(J354:N354)","v":12},1,null,"A"]
["HSD11B2",614232,"Apparent mineralocorticoid excess",218030,"AR","Hypertensive crisis","Childhood","Referral to specialists for surveillance and preemptive management","Childhood",2,3,3,3,2,{"$f":"SUM(J355:N355)","v":13},1]
["HSD17B10",300256,"17-Beta-Hydroxysteroid Dehydrogenase X Deficiency",300438,"X-linked","Syndromic manifestations","Neonatal","Referral to specialists for surveillance and supportive care","Neonatal",0,0,0,0,1,{"$f":"SUM(J356:N356)","v":1},2,"Secondary","A"]
["HSD17B4",601860,"D-bifunctional protein deficiency",261515,"AR","Neurodegeneration","Infant","Referral to specialists for surveillance and supportive care","N / A",3,3,0,0,2,{"$f":"SUM(J357:N357)","v":8},2,null,"A"]
["HSD17B4",601860,"Perrault Syndrome 1",233400,"AR","Syndromic manifestations","Childhood","Referral to specialists for surveillance and supportive care","Neonatal",1,3,2,3,0,{"$f":"SUM(J358:N358)","v":9},2]
["HSD3B2",613890,"3-beta-hydroxysteroid dehydrogenase, type II, deficiency",201810,"AR","Salt-wasting crises","Neonatal","Referral to specialists for surveillance and preemptive management ","Neonatal",3,2,3,3,3,{"$f":"SUM(J359:N359)","v":14},1]
["HYAL1",607071,"Mucopolysaccharidosis type IX",601492,"AR","Swollen joints and periarticular masses","Variable","Referral to specialists for surveillance and supportive care","N / A",0,3,0,0,1,{"$f":"SUM(J360:N360)","v":4},2]
["HYDIN",610812,"Ciliary dyskinesia, primary, 5",608647,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,1,{"$f":"SUM(J361:N361)","v":9},1,null,"C"]
["IDS",300823,"Mucopolysaccharidosis Type II ",309900,"X-linked","Syndromic manifestations","Variable","Referral to specialists for surveillance and early management","Infant",2,3,2,2,2,{"$f":"SUM(J362:N362)","v":11},1,null,"A"]
["IDUA",252800,"Mucopolysaccharidosis Ih",607014,"AR","Syndromic manifestations","Infant","Referral to specialists for surveillance and early management","Infant",3,3,2,1,2,{"$f":"SUM(J363:N363)","v":11},1,"Core","A"]
["IKBKG",300248,"Immunodeficiency, isolated",300584,"X-linked","Immunodeficiency","Infant","Referral to specialists for surveillance and preemptive management ","Neonatal",2,0,1,2,1,{"$f":"SUM(J364:N364)","v":6},2,null,"A"]
["IL21R",605383,"Immunodeficiency, primary, autosomal recessive, IL21R-related",615207,"AR","Immunodeficiency","Childhood","Referral to specialists for surveillance and preemptive management ","Childhood",2,3,3,2,0,{"$f":"SUM(J365:N365)","v":10},2]
["IL2RA",147730,"Interleukin-2 receptor, alpha chain, deficiency of",606367,"AR","Immunodeficiency","Infant","Referral to specialists for surveillance and preemptive management","Childhood",2,3,3,2,1,{"$f":"SUM(J366:N366)","v":11},1]
["IL2RG",308380,"Severe Combined Immunodeficiency, X-linked",300400,"X-linked","Immunodeficiency - combined","Neonatal","Referral to specialists for surveillance and preemptive management ","Neonatal",3,3,3,3,3,{"$f":"SUM(J367:N367)","v":15},1,null,"A"]
["IL7R",146661,"Severe Combined Immunodeficiency, T-cell Negative, B-cell / Natural Killer Cell-Positive Type",608971,"AR","Immunodeficiency - combined","Infant","Referral to specialists for surveillance and preemptive management ","Neonatal",3,3,3,2,2,{"$f":"SUM(J368:N368)","v":13},1]
["ILDR1",609739,"Deafness, autosomal recessive 42",609646,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,2,{"$f":"SUM(J369:N369)","v":12},1,null,"A"]
["INS",176730,"Diabetes mellitus, permanent neonatal",606176,"Multiple and/or complex pattern","Hyperglycemia","Neonatal","Referral to specialists for surveillance and preemptive management","Neonatal",2,3,3,3,2,{"$f":"SUM(J370:N370)","v":13},1]
["ITGA2",192974,"Glycoprotein Ia deficiency / Bleeding disorder, platelet-type, 9",614200,"AD","Bleeding","Birth","Referral to specialists for surveillance and supportive care","N / A",0,3,0,0,1,{"$f":"SUM(J371:N371)","v":4},2]
["ITGA2B",607759,"Glanzmann thrombasthenia",273800,"AR","Bleeding","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,2,{"$f":"SUM(J372:N372)","v":12},1]
["ITGA2B",607759,"Bleeding disorder, platelet-type, 16",187800,"AD","Bleeding","Birth","Referral to specialists for surveillance and supportive care","N / A",0,2,0,0,1,{"$f":"SUM(J373:N373)","v":3},2]
["ITGB3",173470,"Glanzmann thrombasthenia",273800,"AR","Bleeding","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,2,{"$f":"SUM(J374:N374)","v":12},1]
["ITGB3",173470,"Bleeding disorder, platelet-type, 16",187800,"AD","Bleeding","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,2,3,3,1,{"$f":"SUM(J375:N375)","v":10},1]
["ITK",186973,"Lymphoproliferative syndrome 1",613011,"AR","Immunodeficiency - Epstein-Barr virus associated","Childhood","Referral to specialists for surveillance and early management","Childhood",3,3,1,1,1,{"$f":"SUM(J376:N376)","v":9},1]
["IVD",607036,"Isovaleric acidemia",243500,"AR","Metabolic decompensation","Neonatal","Referral to specialists for surveillance and dietary management","Neonatal",3,2,3,2,3,{"$f":"SUM(J377:N377)","v":13},1,"Core","A"]
["IYD",612025,"Thyroid dyshormonogenesis 4",274800,"AR","Hypothyroidism","Infant","Referral to specialists for surveillance and preemptive management ","Neonatal",1,3,3,3,2,{"$f":"SUM(J378:N378)","v":12},1,null,"C"]
["JAG1",601920,"Alagille syndrome / Tetralogy of Fallot / ?Deafness, congenital heart defects, and posterior embryotoxon",118450,"AD","Syndromic manifestations","Neonatal","Referral to specialists for surveillance and early management","Neonatal",2,3,2,2,2,{"$f":"SUM(J379:N379)","v":11},1,null,"A"]
["JAK3",600173,"SCID, AR, T-negative/B-positive type",600802,"AR","Immunodeficiency - combined","Neonatal","Referral to specialists for surveillance and preemptive management ","Neonatal",3,3,3,3,3,{"$f":"SUM(J380:N380)","v":15},1,null,"A"]
["JPH2",605267,"Cardiomyopathy, Familial Hypertrophic, 17",613873,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Neonatal",2,0,2,3,1,{"$f":"SUM(J381:N381)","v":8},2,null,"C"]
["JUP",173325,"Naxos disease (recessive)",601214,"AR","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and preemptive management","Childhood",3,2,2,2,3,{"$f":"SUM(J382:N382)","v":12},1,null,"A"]
["JUP",173325,"Arrhythmogenic right ventricular dysplasia 12",611528,"AD","Arrhythmia and severe cardiac events","Adolescent","Referral to specialists for surveillance and early management","Neonatal",2,0,2,2,0,{"$f":"SUM(J383:N383)","v":6},2,null,"B"]
["KARS",601421,"Deafness, autosomal recessive 89",613916,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,1,{"$f":"SUM(J384:N384)","v":11},1,null,"C"]
["KCNA5",176267,"Atrial fibrillation, familial, 7",612240,"AD","Arrhythmia and severe cardiac events","Adulthood","Referral to specialists for surveillance and early management","Childhood",2,3,2,2,2,{"$f":"SUM(J385:N385)","v":11},1,null,"B"]
["KCND3",605411,"Brugada Syndrome 9",616399,"AD","Arrhythmia and severe cardiac events","Adulthood","Referral to specialists for surveillance and early management","Neonatal",2,0,2,2,0,{"$f":"SUM(J386:N386)","v":6},2,null,"C"]
["KCNE1",176261,"Jervell and Lange-Nielsen syndrome 2 (Recessive)",612347,"AR","Arrhythmia and severe cardiac events","Infant","Referral to specialists for surveillance and preemptive management","Infant",3,3,3,2,3,{"$f":"SUM(J387:N387)","v":14},1,null,"A"]
["KCNE1",176261,"Long QT Syndrome - 5 (Dominant)",613695,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Neonatal",2,2,2,2,2,{"$f":"SUM(J388:N388)","v":10},1,null,"B"]
["KCNE2",603796,"Long QT syndrome 6",613693,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Neonatal",2,1,2,2,1,{"$f":"SUM(J389:N389)","v":8},2,null,"B"]
["KCNE3",604433,"Brugada Syndrome 6",613119,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and preemptive management","Neonatal",3,0,2,2,1,{"$f":"SUM(J390:N390)","v":8},2,null,"C"]
["KCNH2",152427,"Romano-Ward Long QT syndrome 2",613688,"AD","Arrhythmia","Variable","Referral to specialists for surveillance and preemptive management","Neonatal",3,2,2,2,3,{"$f":"SUM(J391:N391)","v":12},1,null,"B"]
["KCNJ10",602208,"SESAME syndrome",612780,"AR","Syndromic manifestations","Neonatal","Referral to specialists for surveillance and early management","Neonatal",1,3,2,3,2,{"$f":"SUM(J392:N392)","v":11},1]
["KCNJ11",600937,"Hyperinsulinemic hypoglycemia, familial 2",601820,"AR","Hyperinsulinemic hypoglycemia","Neonatal","Referral to specialists for surveillance and preemptive management","Neonatal",3,3,3,2,1,{"$f":"SUM(J393:N393)","v":12},1,null,"A"]
["KCNJ11",600937,"Diabetes mellitus, transient and permanent neonatal with neurologic features / Maturity-onset diabetes of the young, type 13",606176,"AD","Hyperglycemia","Neonatal","Referral to specialists for surveillance and preemptive management ","Neonatal",2,3,3,2,2,{"$f":"SUM(J394:N394)","v":12},1]
["KCNJ2",600681,"Andersen-Tawil syndrome; LQT 7",170390,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Childhood",2,2,2,2,2,{"$f":"SUM(J395:N395)","v":10},1,null,"A"]
["KCNJ5",600734,"Hyperaldosteronism, familial, type III",613677,"AD","Hypertensive crisis","Childhood","Referral to specialists for surveillance and preemptive management","Childhood",2,3,3,2,1,{"$f":"SUM(J396:N396)","v":11},1]
["KCNJ5",600734,"Long QT syndrome 13",613485,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Childhood",2,0,2,2,0,{"$f":"SUM(J397:N397)","v":6},2,null,"C"]
["KCNK3",603220,"Pulmonary hypertension, primary, 4",615344,"AD","Pulmonary hypertension","Variable","Referral to specialists for surveillance and early management","Neonatal",2,3,1,2,1,{"$f":"SUM(J398:N398)","v":9},1]
["KCNQ1",607542,"Jervell and Lange-Nielsen syndrome",220400,"AR","Arrhythmia and severe cardiac events","Infant","Referral to specialists for surveillance and preemptive management","Infant",3,3,2,2,3,{"$f":"SUM(J399:N399)","v":13},1,null,"A"]
["KCNQ1",607542,"Romano-Ward Long QT syndrome 1",192500,"AD","Arrhythmia","Variable","Referral to specialists for surveillance and preemptive management","Neonatal",3,2,2,2,3,{"$f":"SUM(J400:N400)","v":12},1,null,"B"]
["KCNQ4",603537,"Deafness, autosomal dominant 2A",600101,"AD","Communication deficits","Variable","Referral to specialists for surveillance and preemptive management","Childhood",1,3,3,3,2,{"$f":"SUM(J401:N401)","v":12},1,null,"A"]
["KLF11",603301,"MODY, type VII (MODY7)",610508,"AD","Diabetes mellitus","Adulthood","Referral to specialists for surveillance and preemptive management ","Adulthood",1,3,0,0,0,{"$f":"SUM(J402:N402)","v":4},4]
["KRIT1",604214,"Cerebral Cavernous Malformations - 1",116860,"AD","Cerebral cavernous malformation","Adolescent-Adulthood","Referral to specialists for surveillance and early management","Infant",1,3,1,3,3,{"$f":"SUM(J403:N403)","v":11},3]
["LAMA4",600133,"Cardiomyopathy, dilated, 1JJ",615235,"AD","Arrhythmia and severe cardiac events","Adulthood","Referral to specialists for surveillance and early management","Neonatal",2,0,2,3,0,{"$f":"SUM(J404:N404)","v":7},2,null,"C"]
["LAMP2",309060,"Glycogen Storage Disease lIb/Danon disease",300257,"X-linked","All cardiovascular manifestations","Childhood","Referral to specialists for surveillance and early management","Childhood",2,3,2,2,2,{"$f":"SUM(J405:N405)","v":11},1,null,"A"]
["LARS2",604544,"Perrault Syndrome 4",615300,"AR","Communication deficits","Childhood","Referral to specialists for surveillance and preemptive management","Infant",1,3,3,3,0,{"$f":"SUM(J406:N406)","v":10},1,null,"C"]
["LCK",153390,"Immunodeficiency 22",615758,"AR","Immunodeficiency","Infant","Referral to specialists for surveillance and preemptive management ","Childhood",3,0,3,2,1,{"$f":"SUM(J407:N407)","v":9},2]
["LDB3",605906,"Cardiomyopathy, Familial Hypertrophic, 24 / Dilated IC w/ or w/o LVNC / Left ventricular noncompaction 3",601493,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Neonatal",2,3,2,3,2,{"$f":"SUM(J408:N408)","v":12},1,null,"C"]
["LDLR",606945,"Familial hypercholesterolemia (homozygous)",143890,"AR","Hypercholesterolemia and cardiovascular disease","Variable","Referral to specialists for surveillance and preemptive management ","Neonatal",2,3,2,1,3,{"$f":"SUM(J409:N409)","v":11},1]
["LDLR",606945,"Familial hypercholesterolemia (heterozygous)",143890,"AD","Hypercholesterolemia and cardiovascular disease","Variable","Referral to specialists for surveillance and preemptive management ","Neonatal",2,3,3,3,3,{"$f":"SUM(J410:N410)","v":14},1,null,"A"]
["LDLRAP1",605747,"Hypercholesterolemia, familial, autosomal recessive",603813,"AR","Hypercholesterolemia","Adulthood","Referral to specialists for surveillance and preemptive management ","Adulthood",2,3,2,3,2,{"$f":"SUM(J411:N411)","v":12},1]
["LHFPL5",609427,"Deafness, autosomal recessive 67",610265,"AR","Communication deficits","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,1,{"$f":"SUM(J412:N412)","v":11},2,null,"A"]
["LHX3",600577,"Pituitary hormone deficiency, combined, 3",221750,"AR","Pituitary hormone deficiency manifestations","Birth","Referral to specialists for surveillance and preemptive management ","Neonatal",2,3,3,3,2,{"$f":"SUM(J413:N413)","v":13},1,null,"A"]
["LIG4",601837,"LIG4 Syndrome",606593,"AR","Immunodeficiency - combined","Variable","Referral to specialists for surveillance and preemptive management ","Infant",1,3,1,3,1,{"$f":"SUM(J414:N414)","v":9},2,null,"A"]
["LIPA",613497,"Cholesteryl Ester Storage Disease (Lysosomal Acid Lipase) *OR* Wolman Disease",278000,"AR","Liver disease - late onset, slowly progressive","Variable","Referral to specialists for surveillance and supportive care","Variable",3,3,0,0,1,{"$f":"SUM(J415:N415)","v":7},2,null,"A"]
["LMBRD1",612625,"Methylmalonic aciduria and homocystinuria, cblF type",277380,"AR","Syndromic manifestations","Infant","Referral to specialists for surveillance and preemptive management ","Neonatal",1,3,2,3,2,{"$f":"SUM(J416:N416)","v":11},1,null,"A"]
["LMNA",150330,"Cardiomyopathy, dilated IA",115200,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Neonatal",2,3,2,3,3,{"$f":"SUM(J417:N417)","v":13},1,null,"B"]
["LOXHD1",613072,"Deafness, autosomal recessive 77",613079,"AR","Communication deficits","Childhood","Referral to specialists for surveillance and preemptive management","Childhood",1,3,3,3,1,{"$f":"SUM(J418:N418)","v":11},1,null,"A"]
["LRRC6",614930,"Ciliary dyskinesia, primary, 19",614935,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,2,{"$f":"SUM(J419:N419)","v":10},1,null,"A"]
["LRTOMT",612414,"Deafness, autosomal recessive 63",611451,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,2,{"$f":"SUM(J420:N420)","v":12},1,null,"A"]
["LTBP4",604710,"Cutis laxa, AR, type IC",613177,"AR","Syndromic manifestations","Neonatal","Referral to specialists for surveillance and supportive care","Neonatal",3,3,0,0,2,{"$f":"SUM(J421:N421)","v":8},2,null,"A"]
["LYST",606897,"Chediak-Higashi syndrome",214500,"AR","Syndromic manifestations","Infant","Referral to specialists for surveillance and early management","Neonatal",2,3,2,1,2,{"$f":"SUM(J422:N422)","v":10},2,null,"A"]
["MAGT1",300715,"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN)",300853,"X-linked","Recurrent infection","Variable","Referral to specialists for surveillance and supportive care","N / A",2,0,0,0,0,{"$f":"SUM(J423:N423)","v":2},2]
["MAN2B1",609458,"Mannosidosis, alpha-, types I and II",248500,"AR","Intellectual disability and psychomotor impairment","Childhood","Referral to specialists for surveillance and preemptive management ","Childhood",1,3,2,1,2,{"$f":"SUM(J424:N424)","v":9},2,null,"A"]
["MANBA",609489,"Beta Manosidosis",248510,"AR","Intellectual disability and seizures","Childhood","Referral to specialists for surveillance and supportive care","N / A",1,3,0,0,2,{"$f":"SUM(J425:N425)","v":6},2]
["MARVELD2",610572,"Deafness, autosomal recessive 49",610153,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,2,{"$f":"SUM(J426:N426)","v":12},1,null,"A"]
["MAT1A",610550,"Methionine Adenosyltransferase Deficiency, AR",250850,"AR, AD","Hypermethioninemia - benign","Birth","Referral to specialists for surveillance and supportive care","N / A",0,3,0,0,2,{"$f":"SUM(J427:N427)","v":5},2,"Secondary","C"]
["MAX",154950,"Pheochromocytoma susceptibility",171300,"AD","Malignant pheochromocytoma / paraganglioma","Adulthood","Referral to specialists for surveillance and/or preemptive management","Childhood",2,2,3,2,2,{"$f":"SUM(J428:N428)","v":11},1]
["MCCC1",609010,"3-Methylcrotonyl-CoA Carboxylase 1 Deficiency",210200,"AR","Mild weakness","Variable","Referral to specialists for surveillance and dietary management","Variable",0,3,1,3,1,{"$f":"SUM(J429:N429)","v":8},2,"Core","B"]
["MCCC2",609014,"3-Methylcrotonyl-CoA Carboxylase 2 Deficiency",210210,"AR","Encephalopathy","Infant","Referral to specialists for surveillance and supportive care","Neonatal",2,1,0,0,1,{"$f":"SUM(J430:N430)","v":4},2,"Core","B"]
["MCIDAS",614086,"Ciliary dyskinesia, primary","N/A","AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,1,{"$f":"SUM(J431:N431)","v":9},1]
["MCOLN1",605248,"Mucolipidosis IV",252650,"AR","Syndromic manifestations","Infant","Referral to specialists for surveillance and supportive care","N / A",2,3,0,0,2,{"$f":"SUM(J432:N432)","v":7},2,null,"A"]
["MEFV (heterozygous/homozygous)",608107,"Familial Mediterranean fever, AD/AR, Classic mutations associated with renal failure","134610 / 249100","Multiple and/or complex pattern","Amyloidosis and renal failure","Childhood","Referral to specialists for surveillance and preemptive management","Childhood",1,2,3,3,3,{"$f":"SUM(J433:N433)","v":12},1,null,"A"]
["MEN1",613733,"Multiple endocrine neoplasia 1",131100,"AD","Syndromic manifestations","Adulthood","Referral to specialists for surveillance and/or preemptive management","Childhood",1,3,3,3,3,{"$f":"SUM(J434:N434)","v":13},1,null,"A"]
["MFSD8",611124,"Ceroid Lipofuscinosis, neuronal, 7 (CLN7)",610951,"AR","Neurodegeneration and retinal degeneration","Childhood","Referral to specialists for surveillance and supportive care","N / A",2,3,0,0,2,{"$f":"SUM(J435:N435)","v":7},2,null,"A"]
["MIR96",611606,"Deafness, autosomal dominant 50",613074,"AD","Communication deficits","Variable","Referral to specialists for surveillance and preemptive management","Variable",1,3,3,3,1,{"$f":"SUM(J436:N436)","v":11},2,null,"C"]
["MITF",156845,"Melanoma, cutaneous malignant, susceptibility to, 8",614456,"AD","Melanoma","Adulthood","Referral to specialists for surveillance and preemptive management ","Childhood",2,1,2,3,1,{"$f":"SUM(J437:N437)","v":9},2]
["MITF",156845,"Waardenburg Syndrome, type 2A",193510,"AD","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,3,{"$f":"SUM(J438:N438)","v":13},1,null,"A"]
["MLH1",120436,"Mismatch repair cancer syndrome",276300,"AR","Hereditary cancer predisposition","Childhood","Referral to specialists for surveillance and/or preemptive management","Neonatal",2,3,1,2,1,{"$f":"SUM(J439:N439)","v":9},2]
["MLH1",120436,"Lynch syndrome",609310,"AD","Hereditary cancer predisposition","Adulthood","Referral to specialists for surveillance and/or preemptive management","Adulthood",2,3,3,2,3,{"$f":"SUM(J440:N440)","v":13},3,null,"C"]
["MLYCD",606761,"Malonyl-CoA Decarboxylase Deficiency",248360,"AR","Cardiomyopathy","Infant","Referral to specialists for surveillance and dietary management","Neonatal",2,2,2,3,2,{"$f":"SUM(J441:N441)","v":11},2,"Secondary","A"]
["MMAA",607481,"Methylmalonic aciduria, vitamin B12-responsive",251100,"AR","Metabolic decompensation","Infant","Referral to specialists for surveillance and dietary management","Neonatal",2,2,3,3,3,{"$f":"SUM(J442:N442)","v":13},1,"Core","A"]
["MMAB",607568,"Methylmalonic aciduria, vitamin B12-responsive, due to defect insynthesis of adenosylcobalamin, cblB complementation type",251110,"AR","Metabolic decompensation","Infant","Referral to specialists for surveillance and dietary management","Neonatal",2,3,2,3,3,{"$f":"SUM(J443:N443)","v":13},1,"Core","A"]
["MMACHC",609831,"Methylmalonic aciduria and homocystinuria, cblC type",277400,"AR","Metabolic decompensation","Infant","Referral to specialists for surveillance and dietary management","Neonatal",2,3,2,3,3,{"$f":"SUM(J444:N444)","v":13},1,"Secondary","A"]
["MMADHC",611935,"Methylmalonic aciduria and homocystinuria, cblD type",277410,"AR","Metabolic decompensation","Infant","Referral to specialists for surveillance and dietary management","Neonatal",2,3,2,2,1,{"$f":"SUM(J445:N445)","v":10},1,"Secondary","A"]
["MPI",154550,"CDG1b",602579,"AR","Syndromic manifestations","Infant","Referral to specialists for surveillance and early management","Neonatal",1,3,3,3,3,{"$f":"SUM(J446:N446)","v":13},1,null,"A"]
["MSH2",609309,"Mismatch repair cancer syndrome",276300,"AR","Hereditary cancer predisposition","Childhood","Referral to specialists for surveillance and/or preemptive management","Neonatal",2,3,1,2,1,{"$f":"SUM(J447:N447)","v":9},2]
["MSH2",609309,"Lynch syndrome",120435,"AD","Hereditary cancer predisposition","Adulthood","Referral to specialists for surveillance and/or preemptive management","Adulthood",2,3,3,2,3,{"$f":"SUM(J448:N448)","v":13},3,null,"C"]
["MSH6",600678,"Mismatch repair cancer syndrome",276300,"AR","Hereditary cancer predisposition","Childhood","Referral to specialists for surveillance and/or preemptive management","Neonatal",2,3,1,2,1,{"$f":"SUM(J449:N449)","v":9},2]
["MSH6",600678,"Lynch syndrome",120435,"AD","Hereditary cancer predisposition","Adulthood","Referral to specialists for surveillance and/or preemptive management","Adulthood",2,3,3,2,3,{"$f":"SUM(J450:N450)","v":13},3,null,"C"]
["MSRB3",613719,"Deafness, autosomal recessive 74",613718,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,1,{"$f":"SUM(J451:N451)","v":11},1,null,"C"]
["MTHFR",607093,"{Thromboembolism, susceptibility to}",188050,"Multiple and/or complex pattern","Thrombosis","Variable","Referral to specialists for surveillance and preemptive management ","Variable",2,0,1,3,2,{"$f":"SUM(J452:N452)","v":8},2]
["MTHFR",607093,"Homocystinuria due to MTHFR deficiency",236250,"AR","Thrombosis","Variable","Referral to specialists for surveillance and preemptive management ","Variable",2,3,3,3,2,{"$f":"SUM(J453:N453)","v":13},1,"Core","B"]
["MTR",156570,"Homocystinuria-megaloblastic anemia, cblG complementation type",250940,"AR","Syndromic manifestations","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",2,3,2,3,2,{"$f":"SUM(J454:N454)","v":12},1,"Core","A"]
["MTRR",602568,"Homocystinuria-megaloblastic anemia, cbl E type",236270,"AR","Syndromic manifestations","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",2,3,2,3,2,{"$f":"SUM(J455:N455)","v":12},1,"Core","A"]
["MUC5B",600770,"{Pulmonary fibrosis, idiopathic, susceptibility to} / Pulmonary fibrosis",178500,"AD","Pulmonary fibrosis and pneumonia","Adulthood","Referral to specialists for surveillance and supportive care","N / A",2,0,0,0,1,{"$f":"SUM(J456:N456)","v":3},4,null,"C"]
["MUT",609058,"Methylmalonic aciduria, mut(0) type",251000,"AR","Metabolic decompensation","Infant","Referral to specialists for surveillance and dietary management","Neonatal",3,3,2,2,3,{"$f":"SUM(J457:N457)","v":13},1,"Core","A"]
["MUTYH",604933,"Attenuated FAP / MUTYH-associated polyposis",608456,"AR","Hereditary cancer predisposition","Adulthood","Referral to specialists for surveillance and/or preemptive management","Adulthood",2,3,3,2,3,{"$f":"SUM(J458:N458)","v":13},3,null,"A"]
["MYBPC3",600958,"Cardiomyopathy (Hypertrophic 4, Dilated IMM)",115197,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Neonatal",2,3,2,3,3,{"$f":"SUM(J459:N459)","v":13},1,null,"B"]
["MYH11",160745,"Familial Thoracic Aortic Aneurysms 4",132900,"AD","Aortic dissection","Adulthood","Referral to specialists for surveillance and preemptive management","Childhood",3,2,2,3,1,{"$f":"SUM(J460:N460)","v":11},1,null,"B"]
["MYH14",608568,"Non-Syndromic Deafness, Dominant 4A",600652,"AD","Communication deficits","Childhood","Referral to specialists for surveillance and preemptive management","Infant",0,3,3,3,1,{"$f":"SUM(J461:N461)","v":10},2,null,"A"]
["MYH6",160710,"Cardiomyopathy (Hypertrophic 14, dilated, 1EE)",613251,"AD","Arrhythmia and severe cardiac events","Adulthood","Referral to specialists for surveillance and early management","Neonatal",2,0,2,3,0,{"$f":"SUM(J462:N462)","v":7},2,null,"C"]
["MYH7",160760,"Cardiomyopathy (Hypertrophic 1, Dilated, 1S / Left Ventricular Noncompaction 5) and related myopathies",192600,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Neonatal",2,2,2,3,3,{"$f":"SUM(J463:N463)","v":12},1,null,"A,B"]
["MYH9",160775,"Deafness, autosomal dominant 17",603622,"AD","Communication deficits","Childhood - Adolescence","Referral to specialists for surveillance and preemptive management","Variable",1,3,3,3,1,{"$f":"SUM(J464:N464)","v":11},2]
["MYH9",160775,"MYH9-related disorders (MYH9RD)",153650,"AD","Macrothrombocytopenia","Childhood","Referral to specialists for surveillance and early management","Childhood",0,3,3,3,3,{"$f":"SUM(J465:N465)","v":12},1,null,"A"]
["MYL2",160781,"Hypertrophic cardiomyopathy 10",608758,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Neonatal",2,2,2,3,2,{"$f":"SUM(J466:N466)","v":11},1,null,"B"]
["MYL3",160790,"Hypertrophic cardiomyopathy 8",608751,"Multiple and/or complex pattern","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Neonatal",2,3,2,3,2,{"$f":"SUM(J467:N467)","v":12},1,null,"B"]
["MYLK",600922,"Familial Thoracic Aortic Aneurysms 7",613780,"AD","Aortic dissection","Adulthood","Referral to specialists for surveillance and preemptive management","Adulthood",3,3,1,2,1,{"$f":"SUM(J468:N468)","v":10},4,null,"B"]
["MYLK2",606566,"Hypertrophic cardiomyopathy 1, digenic",192600,"AD","Arrhythmia and severe cardiac events","Adolecent ","Referral to specialists for surveillance and early management","Neonatal",0,0,2,3,0,{"$f":"SUM(J469:N469)","v":5},2,null,"C"]
["MYO15A",602666,"Deafness, autosomal recessive 3",600316,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,2,{"$f":"SUM(J470:N470)","v":12},1,null,"A"]
["MYO3A",606808,"Deafness, autosomal recessive 30",607101,"AR","Communication deficits","Adolescent","Referral to specialists for surveillance and preemptive management","Adolescent",0,3,3,3,0,{"$f":"SUM(J471:N471)","v":9},2,null,"A"]
["MYO6",600970,"Non-Syndromic Deafness, Recessive 37",607821,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,1,{"$f":"SUM(J472:N472)","v":11},1,null,"A"]
["MYO6",600970,"Non-Syndromic Deafness, Dominant 22",606346,"AD","Communication deficits","Childhood","Referral to specialists for surveillance and preemptive management","Childhood",1,3,3,3,2,{"$f":"SUM(J473:N473)","v":12},1]
["MYO7A",276903,"Deafness, autosomal recessive, 2",600060,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,3,{"$f":"SUM(J474:N474)","v":13},1]
["MYO7A",276903,"Usher Syndrome, type 1B",276900,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",2,3,2,3,3,{"$f":"SUM(J475:N475)","v":13},1,null,"A"]
["MYO7A",276903,"Deafness, autosomal dominant 11",601317,"AD","Communication deficits","Adulthood","Referral to specialists for surveillance and preemptive management","Childhood",1,3,3,3,1,{"$f":"SUM(J476:N476)","v":11},2]
["MYOZ2",605602,"Cardiomyopathy, Familial Hypertrophic, 16",613838,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Neonatal",2,0,2,3,0,{"$f":"SUM(J477:N477)","v":7},2,null,"C"]
["MYPN",608517,"Cardiomyopathy, Familial Hypertrophic, 22 / Dilated 1KK / Familial restrictive 4",615248,"AD","Arrhythmia and severe cardiac events","Adulthood","Referral to specialists for surveillance and early management","Neonatal",2,0,2,3,1,{"$f":"SUM(J478:N478)","v":8},2,null,"C"]
["NAA10",300013,"Ogden syndrome",300855,"X-linked","Arrhythmia and severe cardiac events","Infant","Referral to specialists for surveillance and supportive care","N / A",3,3,0,0,1,{"$f":"SUM(J479:N479)","v":7},2,null,"C"]
["NADK2",615787,"?2,4-dienoyl-CoA reductase deficiency",616034,"AR","Encephalopathy","Neonatal","Referral to specialists for surveillance and supportive care","N/A",3,3,0,0,1,{"$f":"SUM(J480:N480)","v":7},2,"Secondary"]
["NAGA",104170,"Kanzaki disease (Schindler's Disease type II)",609242,"AR","Syndromic manifestations","Adolescent/Adult","Referral to specialists for surveillance and supportive care","N / A",1,3,0,0,1,{"$f":"SUM(J481:N481)","v":5},4,null,"A"]
["NAGLU",609701,"Mucopolysaccharidosis type IIIB (Sanfilippo B)",252920,"AR","Syndromic manifestations","Childhood","Referral to specialists for surveillance and supportive care","N / A",3,3,0,0,2,{"$f":"SUM(J482:N482)","v":8},2,null,"A"]
["NAGS",608300,"N-acetylglutamate synthase deficiency",237310,"AR","Hyperammonemic crisis","Neonatal","Referral to specialists for surveillance and dietary management","Neonatal",3,3,3,2,3,{"$f":"SUM(J483:N483)","v":14},1,null,"A"]
["NARS2",612803,"Combined oxidative phosphorylation deficiency 24",616239,"AR","Syndromic manifestations","Infant","Referral to specialists for surveillance and supportive care","N / A",3,3,0,0,1,{"$f":"SUM(J484:N484)","v":7},2]
["NBEAL2",614169,"Gray Platelet syndrome",139090,"AR","Bleeding","Infant","Referral to specialists for surveillance and preemptive management","Variable",1,3,3,3,2,{"$f":"SUM(J485:N485)","v":12},1]
["NEU1",608272,"Sialidosis/ MUCOLIPIDOSIS I",256550,"AR","Syndromic manifestations","Infant","Referral to specialists for surveillance and supportive care","N / A",3,3,0,0,1,{"$f":"SUM(J486:N486)","v":7},2,null,"A"]
["NEUROD1",601724,"MODY, type VI (MODY6)",606394,"AD","Diabetes mellitus","Adulthood","Referral to specialists for surveillance and preemptive management ","Childhood",1,3,0,0,1,{"$f":"SUM(J487:N487)","v":5},2]
["NEXN",613121,"Cardiomyopathy (Familial Hypertrophic 20, Dilated 1CC)",613876,"AD","Arrhythmia and severe cardiac events","Adulthood","Referral to specialists for surveillance and early management","Neonatal",2,3,2,3,2,{"$f":"SUM(J488:N488)","v":12},1,null,"C"]
["NF1",613113,"Neurofibromatosis, type 1",162200,"AD","Syndromic manifestations","Infant","Referral to specialists for surveillance and early management","Infant",1,2,2,2,3,{"$f":"SUM(J489:N489)","v":10},1,null,"A"]
["NF2",607379,"Neurofibromatosis type 2",101000,"AD","Acoustic neuroma and meningiomas","Adulthood","Referral to specialists for surveillance and early management","Adolescent",1,3,1,3,3,{"$f":"SUM(J490:N490)","v":11},3,null,"A"]
["NFKB2",164012,"Immunodeficiency, common variable, 10",615577,"AD","Immunodeficiency","Infant","Referral to specialists for surveillance and preemptive management ","Infant",1,3,2,3,1,{"$f":"SUM(J491:N491)","v":10},1]
["NHEJ1",611290,"Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation",611291,"AR","Immunodeficiency - combined","Infant","Referral to specialists for surveillance and preemptive management ","Infant",3,0,2,3,1,{"$f":"SUM(J492:N492)","v":9},2,null,"A"]
["NKX2-1",600635,"Choreoathetosis, hypothyroidism, and neonatal respiratory distress",610978,"AD","Hypothyroidism","Birth","Referral to specialists for surveillance and preemptive management ","Neonatal",1,3,3,3,2,{"$f":"SUM(J493:N493)","v":12},1,null,"A"]
["NKX2-5",600584,"Hypothyroidism, congenital nongoitrous, 5",225250,"Multiple and/or complex pattern","Thyroid dysgenesis","Variable","Referral to specialists for surveillance and preemptive management ","Variable",2,0,3,3,0,{"$f":"SUM(J494:N494)","v":8},2,null,"B"]
["NKX2-6",611770,"Persistent truncus arteriosus / Conotruncal heart defects",217095,"AR","Cyanotic heart disease","Neonatal","Referral to specialists for surveillance and early management","Neonatal",2,3,2,2,1,{"$f":"SUM(J495:N495)","v":10},1]
["NLRP3",606416,"Muckle-Wells syndrome / CINCA syndrome / Familial cold-induced inflammatory syndrome 1",191900,"AD","Syndromic manifestations","Infant","Referral to specialists for surveillance and preemptive management ","Neonatal",2,0,3,3,2,{"$f":"SUM(J496:N496)","v":10},1]
["NME8",607421,"Ciliary dyskinesia, primary, 6",610852,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,0,{"$f":"SUM(J497:N497)","v":8},2,null,"C"]
["NODAL",601265,"Heterotaxy, Visceral",270100,"AD","Syndromic manifestations","Neonatal","Referral to specialists for surveillance and early management","Neonatal",1,2,2,3,1,{"$f":"SUM(J498:N498)","v":9},2]
["NOTCH2",600275,"Alagille syndrome 2",610205,"AD","Syndromic manifestations","Neonatal","Referral to specialists for surveillance and early management","Neonatal",2,3,2,2,2,{"$f":"SUM(J499:N499)","v":11},1]
["NPC1",607623,"Niemann-Pick Disease, types C1 and D",257220,"AR","Neurodegeneration","Childhood","Referral to specialists for surveillance and preemptive management","Infant",2,3,1,3,3,{"$f":"SUM(J500:N500)","v":12},1,null,"A"]
["NPC2",601015,"Niemann-Pick Disease, type C2",607625,"AR","Neurodegeneration","Infant","Referral to specialists for surveillance and preemptive management","Infant",2,3,1,3,2,{"$f":"SUM(J501:N501)","v":11},1,null,"A"]
["OAT",613349,"Gyrate Atrophy of the Choroid and Retina",258870,"AR","Progressive chorioretinal degeneration","Childhood","Referral to specialists for surveillance and dietary management","Neonatal",1,3,2,2,3,{"$f":"SUM(J502:N502)","v":11},1]
["OFD1",300170,"Orofaciodigital syndrome I / Joubert syndrome 10 / Simpson-Golabi-Behmel syndrome, type 2 / ?Retinitis pigmentosa 23",311200,"X-linked","Syndromic manifestations","Birth","Referral to specialists for surveillance and supportive care","N / A",1,3,0,0,2,{"$f":"SUM(J503:N503)","v":6},2,null,"A"]
["OPA1",605290,"Optic atrophy plus syndrome / Optic atrophy 1",125250,"AD","Communication deficits and visual impairment","Childhood","Referral to specialists for surveillance and preemptive management","Neonatal",2,2,1,3,2,{"$f":"SUM(J504:N504)","v":10},2]
["OPA3",606580,"3-Methylglutaconic Aciduria, type III",258501,"AR","Neurologic involvement","Variable","Referral to specialists for surveillance and supportive care","Neonatal",1,3,0,0,2,{"$f":"SUM(J505:N505)","v":6},2,"Secondary","A"]
["OPLAH",614243,"5-oxoprolinase deficiency",260005,"Multiple and/or complex pattern","Syndromic manifestations","Variable","Referral to specialists for surveillance and supportive care","N / A",0,3,0,0,1,{"$f":"SUM(J506:N506)","v":4},2]
["OSBPL2",606731,"Deafness, autosomal dominant 67",616340,"AD","Communication deficits","Adolescent","Referral to specialists for surveillance and preemptive management","Neonatal",0,3,3,3,1,{"$f":"SUM(J507:N507)","v":10},2]
["OTC",300461,"Ornithine transcarbamylase deficiency (Females)",311250,"X-linked","Hyperammonemic crisis","Infant","Referral to specialists for surveillance and dietary management","Neonatal",2,2,3,3,3,{"$f":"SUM(J508:N508)","v":13},1]
["OTC",300461,"Ornithine transcarbamylase deficiency (Males)",311250,"X-linked","Hyperammonemic crisis","Neonatal","Referral to specialists for surveillance and dietary management","Neonatal",3,3,3,2,3,{"$f":"SUM(J509:N509)","v":14},1,null,"A"]
["OTOA",607038,"Deafness, autosomal recessive 22",607039,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,1,{"$f":"SUM(J510:N510)","v":11},1,null,"A"]
["OTOF",603681,"Deafness, autosomal recessive 9",601071,"AR","Communication deficits and/or auditory neuropathy","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,3,{"$f":"SUM(J511:N511)","v":13},1,null,"A"]
["OTOG",604487,"Deafness, autosomal recessive 18B",614945,"AR","Communication deficits","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,1,{"$f":"SUM(J512:N512)","v":11},1,null,"A"]
["OTOGL",614925,"Deafness, autosomal recessive 84B",614944,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,1,{"$f":"SUM(J513:N513)","v":11},1,null,"A"]
["P2RX2",600844,"Deafness, autosomal dominant 41",608224,"AD","Communication deficits","Adolescent","Referral to specialists for surveillance and preemptive management","Adolescent",1,3,3,3,1,{"$f":"SUM(J514:N514)","v":11},2]
["P2RY12",600515,"Bleeding disorder, platelet-type, 8",609821,"AR","Bleeding","Childhood","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,2,{"$f":"SUM(J515:N515)","v":12},1]
["PAH",612349,"Phenylketonuria",261600,"AR","Intellectual disability","Infant"," Referral to specialists for surveillance and dietary management","Neonatal",2,3,3,2,3,{"$f":"SUM(J516:N516)","v":13},1,"Core","A"]
["PALB2",610355,"Fanconi anemia, complementation group N",610832,"AR","Bone marrow dysfunction and multi-system disease","Childhood","Referral to specialists for surveillance and early management","Infant",2,3,2,2,1,{"$f":"SUM(J517:N517)","v":10},1]
["PALB2",610355,"{Breast cancer, susceptibility to}",114480,"AD","Hereditary cancer predisposition","Adulthood","Referral to specialists for surveillance and/or preemptive management","Adulthood",2,2,2,3,2,{"$f":"SUM(J518:N518)","v":11},3,null,"C"]
["PAX3",606597,"Waardenburg Syndrome, type 3",148820,"Multiple and/or complex pattern","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Infant",1,2,3,3,2,{"$f":"SUM(J519:N519)","v":11},1]
["PAX3",606597,"Waardenburg Syndrome, type 1",193500,"AD","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,3,{"$f":"SUM(J520:N520)","v":13},1,null,"A"]
["PAX4",167413,"MODY, type IX (MODY9)",612225,"AD","Diabetes mellitus","Adulthood","Referral to specialists for surveillance and preemptive management ","Adulthood",1,3,0,0,0,{"$f":"SUM(J521:N521)","v":4},4]
["PAX8",167415,"Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia",218700,"Multiple and/or complex pattern","Thyroid dysgenesis","Infant","Referral to specialists for surveillance and preemptive management ","Neonatal",2,2,3,3,2,{"$f":"SUM(J522:N522)","v":12},1,null,"A"]
["PCBD1",126090,"Hyperphenylalaninemia, BH4-deficient, D",264070,"AR","Hyperphenylalaninemia without cognitive impairment","Infant","Referral to specialists for surveillance and supportive care","N / A",0,3,0,0,1,{"$f":"SUM(J523:N523)","v":4},2,"Secondary"]
["PCCA",232000,"Propionicacidemia",606054,"AR","Organic aciduria manifestations","Neonatal","Referral to specialists for surveillance and early management","Neonatal",3,3,1,3,3,{"$f":"SUM(J524:N524)","v":13},1,"Core","A"]
["PCCB",232050,"Propionicacidemia",606054,"AR","Organic acidemia manifestations","Neonatal","Referral to specialists for surveillance and preemptive management ","Neonatal",3,3,1,3,3,{"$f":"SUM(J525:N525)","v":13},1,"Core","A"]
["PCDH15",605514,"Deafness, autosomal recessive 23",609533,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,2,{"$f":"SUM(J526:N526)","v":12},1]
["PCDH15",605514,"Usher Syndrome, type 1F",602083,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",2,3,2,3,3,{"$f":"SUM(J527:N527)","v":13},1,null,"A"]
["PCSK9",607786,"Familial hypercholesterolemia 3",603776,"AD","Hypercholesterolemia and cardiovascular disease","Variable","Referral to specialists for surveillance and preemptive management ","Adolescent",2,3,3,3,2,{"$f":"SUM(J528:N528)","v":13},1,null,"B"]
["PDX1",600733,"Pancreatic agenesis 1",260370,"AR","Neonatal diabetes mellitus","Neonatal","Referral to specialists for surveillance and preemptive management ","Neonatal",2,3,3,3,2,{"$f":"SUM(J529:N529)","v":13},1]
["PDX1",600733,"MODY, type IV (MODY4)",606392,"AD","Diabetes mellitus","Adolescence","Referral to specialists for surveillance and preemptive management ","Childhood",1,3,0,0,1,{"$f":"SUM(J530:N530)","v":5},2]
["PDZD7 / ADGRV1",612971,"Usher Syndrome, type 2C, GPR98/PDZD7 Digenic",605472,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,0,2,3,0,{"$f":"SUM(J531:N531)","v":6},2]
["PEX1",602136,"Peroxisome biogenesis disorder 1A (Zellweger) / Peroxisome biogenesis disorder 1B (NALD/IRD)",234580,"AR","Syndromic manifestations","Neonatal","Referral to specialists for surveillance and supportive care","N / A",2,3,0,0,2,{"$f":"SUM(J532:N532)","v":7},2]
["PEX6",601498,"Peroxisome biogenesis disorder 4A (Zellweger) / Peroxisome biogenesis disorder 4B / Heimler syndrome 2",616617,"AR","Syndromic manifestations","Neonatal","Referral to specialists for surveillance and supportive care","N / A",2,3,0,0,2,{"$f":"SUM(J533:N533)","v":7},2,null,"A"]
["PFKM",610681,"Glycogen storage disease VII",232800,"AR","Syndromic manifestations","Childhood","Referral to specialists for surveillance and early management","Neonatal",1,2,2,3,1,{"$f":"SUM(J534:N534)","v":9},2,null,"A"]
["PGAM2",612931,"Glycogen storage disease X",261670,"AR","Syndromic manifestations","Adolescent","Referral to specialists for surveillance and early management","Infant",1,2,2,3,1,{"$f":"SUM(J535:N535)","v":9},2]
["PHKA2",300798,"Glycogen Storage Disease, type IXa1/IXa2",306000,"X-linked","Severe hypoglycemic episode","Childhood","Referral to specialists for surveillance and dietary management","Infant",2,2,3,3,2,{"$f":"SUM(J536:N536)","v":12},1,null,"A"]
["PHKG2",172471,"Liver Phosphorylase Kinase Deficiency / Glycogen Storage Disease IXC (GSD9C)",613027,"AR","Hypoglycemia and hepatomegaly","Infant","Referral to specialists for surveillance and dietary management","Infant",1,3,3,3,1,{"$f":"SUM(J537:N537)","v":11},1,null,"A"]
["PHOX2B",603851,"Central hypoventilation syndrome, congenital, with or without Hirschsprung disease",209880,"AD","Hypoventilation","Birth","Referral to specialists for surveillance and early management","Neonatal",3,3,3,2,3,{"$f":"SUM(J538:N538)","v":14},1,null,"B"]
["PIK3CD",602839,"Immunodeficiency 14",615513,"AD","Immunodeficiency","Childhood","Referral to specialists for surveillance and preemptive management ","Childhood",2,3,2,3,2,{"$f":"SUM(J539:N539)","v":12},1]
["PKP2",602861,"Arrhythmogenic right ventricular cardiomyopathy 9",609040,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Childhood",2,3,2,2,2,{"$f":"SUM(J540:N540)","v":11},1,null,"B"]
["PLAU",191840,"Quebec Platelet Disorder",601709,"AD","Bleeding","Variable","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,3,{"$f":"SUM(J541:N541)","v":13},1]
["PLCG2",600220,"Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID)",614878,"AD","Blistering skin lesions","Infant","Referral to specialists for surveillance and early management","Infant",1,0,1,2,0,{"$f":"SUM(J542:N542)","v":4},2]
["PLN",172405,"Cardiomyopathy (Familial Hypertrophic 18, dilated, 1P)",613874,"AD","Arrhythmia and severe cardiac events","Adulthood","Referral to specialists for surveillance and early management","Neonatal",2,3,2,3,2,{"$f":"SUM(J543:N543)","v":12},1,null,"C"]
["PMS2",600259,"Mismatch repair cancer syndrome",276300,"AR","Hereditary cancer predisposition","Childhood","Referral to specialists for surveillance and/or preemptive management","Neonatal",2,3,1,2,1,{"$f":"SUM(J544:N544)","v":9},2]
["PMS2",600259,"Lynch syndrome",120435,"AD","Hereditary cancer predisposition","Adulthood","Referral to specialists for surveillance and/or preemptive management","Adulthood",2,2,3,2,3,{"$f":"SUM(J545:N545)","v":12},3,null,"C"]
["PNP",164050,"Immunodeficiency due to purine nucleoside phosphorylase deficiency",613179,"AR","Immunodeficiency","Childhood","Referral to specialists for surveillance and preemptive management","Childhood",3,3,1,2,2,{"$f":"SUM(J546:N546)","v":11},2]
["PNPO",603287,"Pyridoxamine 5'-phosphate oxidase deficiency",610090,"AR","Microcephaly and neurologic involvement","Neonatal","Referral to specialists for surveillance and preemptive management ","Neonatal",2,3,3,3,3,{"$f":"SUM(J547:N547)","v":14},1,null,"A"]
["POLD1",174761,"{Colorectal cancer, susceptibility to, 10} ",612591,"AD","Hereditary cancer predisposition","Adulthood","Referral to specialists for surveillance and/or preemptive management","Adulthood",2,3,3,2,1,{"$f":"SUM(J548:N548)","v":11},3]
["POLE",174762,"{Colorectal cancer, susceptibility to, 12}",615083,"AD","Hereditary cancer predisposition","Adulthood","Referral to specialists for surveillance and/or preemptive management","Adulthood",2,3,3,2,1,{"$f":"SUM(J549:N549)","v":11},3]
["POLR1C",610060,"Leukodystrophy, hypomyelinating, 11",616494,"AR","Neurodegeneration","Infant","Referral to specialists for surveillance and supportive care","N / A",2,3,0,0,1,{"$f":"SUM(J550:N550)","v":6},2]
["POLR1C",610060,"Treacher Collins syndrome 3",248390,"AR","Communication deficits","Neonatal","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,2,3,0,{"$f":"SUM(J551:N551)","v":9},2]
["POLR1D",613715,"Treacher Collins syndrome 2",613717,"Multiple and/or complex pattern","Communication deficits","Neonatal","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,2,3,1,{"$f":"SUM(J552:N552)","v":10},1]
["POU1F1",173110,"Pituitary hormone deficiency, combined, 1",613038,"Multiple and/or complex pattern","Pituitary hormone deficiency manifestations","Infant","Referral to specialists for surveillance and preemptive management ","Childhood",2,3,2,3,2,{"$f":"SUM(J553:N553)","v":12},1,null,"A"]
["POU3F4",300039,"Deafness, X-linked 2",304400,"X-linked","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Birth",1,3,3,3,2,{"$f":"SUM(J554:N554)","v":12},1,null,"A"]
["POU4F3",602460,"Deafness, autosomal dominant 15",602459,"AD","Communication deficits","Adulthood","Referral to specialists for surveillance and preemptive management","Adolescent",1,3,3,3,2,{"$f":"SUM(J555:N555)","v":12},1,null,"A"]
["PPT1",600722,"Ceroid Lipofuscinosis, neuronal, 1 (CLN1)",256730,"AR","Neurodegeneration and retinal degeneration","Childhood","Referral to specialists for surveillance and supportive care","N / A",3,3,0,0,3,{"$f":"SUM(J556:N556)","v":9},2,null,"A"]
["PRDM16",605557,"Cardiomyopathy, dilated 1LL / Left Ventricular Noncompaction 8",615373,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Neonatal",0,0,2,3,0,{"$f":"SUM(J557:N557)","v":5},2,null,"C"]
["PRKACG",176893,"?Bleeding disorder, platelet-type, 19",616176,"AR","Bleeding","Childhood","Referral to specialists for surveillance and preemptive management","Infant",1,3,1,3,0,{"$f":"SUM(J558:N558)","v":8},2]
["PRKAG2",602743,"Cardiomyopathy (Familial hypertrophic, 6 / Wolff-Parkinson-White syndrome)",600858,"AD","Arrhythmia and syndromic manifestions","Variable","Referral to specialists for surveillance and preemptive management","Neonatal",3,2,2,2,2,{"$f":"SUM(J559:N559)","v":11},1,null,"A,B"]
["PRKAG2",602743,"Glycogen storage disease of heart, lethal congenital",261740,"AD","Arrhythmia","Birth","Referral to specialists for surveillance and supportive care","N / A",3,3,0,0,1,{"$f":"SUM(J560:N560)","v":7},2,null,"C"]
["PRKDC",600899,"SCID",615966,"AR","Immunodeficiency - combined","Infant","Referral to specialists for surveillance and supportive care","N / A",3,0,0,0,0,{"$f":"SUM(J561:N561)","v":3},2]
["PROC",612283,"Thrombophilia due to protein C deficiency, autosomal recessive",612304,"AR","Thrombosis","Neonatal","Referral to specialists for surveillance and preemptive management ","Neonatal",3,3,1,2,2,{"$f":"SUM(J562:N562)","v":11},1,null,"A"]
["PROC",612283,"Thrombophilia due to protein C deficiency, autosomal dominant",176860,"AD","Thrombosis","Adulthood","Referral to specialists for surveillance and preemptive management ","Adolescent",1,3,2,3,2,{"$f":"SUM(J563:N563)","v":11},1]
["PROP1",601538,"Pituitary hormone deficiency, combined, 2",262600,"AR","Growth failure / failure to thrive","Infant","Referral to specialists for surveillance and preemptive management ","Childhood",1,3,3,3,3,{"$f":"SUM(J564:N564)","v":13},1,null,"A"]
["PROS1",176880,"Thrombophilia due to protein S deficiency, autosomal recessive",614514,"AR","Thrombosis","Neonatal","Referral to specialists for surveillance and preemptive management ","Neonatal",3,3,1,2,1,{"$f":"SUM(J565:N565)","v":10},1,null,"A"]
["PROS1",176880,"Thrombophilia due to protein S deficiency, autosomal dominant",612336,"AD","Thrombosis","Adulthood","Referral to specialists for surveillance and preemptive management ","Adolescent",1,3,2,3,2,{"$f":"SUM(J566:N566)","v":11},1]
["PRPS1",311850,"Deafness, X-linked 1",304500,"X-linked","Communication deficits","Variable","Referral to specialists for surveillance and preemptive management","Variable",1,3,3,3,1,{"$f":"SUM(J567:N567)","v":11},1]
["PSEN1",104311,"Cardiomyopathy, dilated, 1U",613694,"AD","Arrhythmia and severe cardiac events","Adulthood","Referral to specialists for surveillance and early management","Neonatal",2,0,2,3,0,{"$f":"SUM(J568:N568)","v":7},2]
["PSEN2",600759,"Cardiomyopathy, dilated, 1V",613697,"AD","Arrhythmia and severe cardiac events","Adulthood","Referral to specialists for surveillance and early management","Neonatal",2,0,2,3,0,{"$f":"SUM(J569:N569)","v":7},2]
["PTCH1",601309,"Basal cell nevus syndrome",109400,"AD","Medulloblastoma","Infant","Referral to specialists for surveillance and early management","Infant",2,1,1,3,1,{"$f":"SUM(J570:N570)","v":8},2,null,"A"]
["PTEN",601728,"PTEN hamartoma tumor syndrome",158350,"AD","Hereditary cancer predisposition","Adulthood","Referral to specialists for surveillance and/or preemptive management","Childhood",2,3,2,3,2,{"$f":"SUM(J571:N571)","v":12},1]
["PTPN11",176876,"LEOPARD syndrome 1 / Noonan syndrome 1 / Leukemia, Juvenile myelomonocytic / Metachondromatosis",151100,"AD","Cardiac manifestations ","Birth","Referral to specialists for surveillance and early management","Neonatal",2,3,2,2,3,{"$f":"SUM(J572:N572)","v":12},1,null,"A"]
["PTPRC",151460,"Severe Combined Immunodeficiency, T cell-negative, B-cell / Natural Killer-Cell Positive",608971,"AR","Immunodeficiency - combined","Infant","Referral to specialists for surveillance and preemptive management ","Neonatal",3,3,3,2,1,{"$f":"SUM(J573:N573)","v":12},1]
["PTPRQ",603317,"Deafness, autosomal recessive 84A",613391,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,1,{"$f":"SUM(J574:N574)","v":11},1]
["PTS",612719,"Hyperphenylalaninemia, BH4-deficient, A",261640,"AR","Hyperphenylalaninemia with cognitive impairment","Infant","Referral to specialists for surveillance and preemptive management ","Neonatal",2,3,3,3,2,{"$f":"SUM(J575:N575)","v":13},1,"Secondary","A"]
["PYGL",613741,"Glycogen Storage Disease VI",232700,"AR","Syndromic manifestations","Infant","Referral to specialists for surveillance and dietary management","Neonatal",0,3,3,3,1,{"$f":"SUM(J576:N576)","v":10},1,null,"A"]
["PYGM",608455,"McArdle Disease",232600,"AR","Syndromic manifestations","Childhood","Referral to specialists for surveillance and preemptive management","Childhood",1,3,2,3,3,{"$f":"SUM(J577:N577)","v":12},1]
["QDPR",612676,"Hyperphenylalaninemia, BH4-deficient, C",261630,"AR","Hyperphenylalaninemia with cognitive impairment","Infant","Referral to specialists for surveillance and preemptive management ","Neonatal",2,3,3,3,2,{"$f":"SUM(J578:N578)","v":13},1,"Secondary","A"]
["RAB23",606144,"Carpenter Syndrome",201000,"AR","Craniosynostosis","Birth","Referral to specialists for surveillance and early management","Infant",1,3,3,2,2,{"$f":"SUM(J579:N579)","v":11},1,null,"A"]
["RAD51",179617,"?Fanconi anemia, complementation group R",617244,"AD","Bone marrow dysfunction and multi-system disease","Childhood","Referral to specialists for surveillance and early management","Infant",2,3,2,2,0,{"$f":"SUM(J580:N580)","v":9},2]
["RAD51C",602774,"Fanconi anemia, complementation group O",613390,"AR","Bone marrow dysfunction and multi-system disease","Childhood","Referral to specialists for surveillance and early management","Infant",2,3,2,2,0,{"$f":"SUM(J581:N581)","v":9},2]
["RAG1",179615,"Severe combined immunodeficiency, B cell-negative",601457,"AR","Immunodeficiency - combined","Infant","Referral to specialists for surveillance and preemptive management ","Neonatal",3,3,3,2,3,{"$f":"SUM(J582:N582)","v":14},1,null,"A"]
["RAG2",179616,"Severe combined immunodeficiency, B cell-negative ",601457,"AR","Immunodeficiency - combined","Infant","Referral to specialists for surveillance and preemptive management ","Neonatal",3,3,3,2,2,{"$f":"SUM(J583:N583)","v":13},1,null,"A"]
["RASA1",139150,"Capillary malformation-arteriovenous malformation",608354,"AD","Capillary and arteriovenous malformations","Variable","Referral to specialists for surveillance and early management","Adolescent",2,2,2,3,2,{"$f":"SUM(J584:N584)","v":11},1,null,"A"]
["RASGRP2",605577,"?Bleeding disorder, platelet-type, 18",615888,"AR","Bleeding","Neonatal","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,1,3,0,{"$f":"SUM(J585:N585)","v":8},2]
["RB1",614041,"Retinoblastoma",180200,"Multiple and/or complex pattern","Retinoblastoma","Neonatal","Referral to specialists for surveillance and/or preemptive management","Neonatal",2,3,3,2,3,{"$f":"SUM(J586:N586)","v":13},1,null,"A"]
["RBM20",613171,"Cardiomyopathy, dilated, 1DD",613172,"AD","Arrhythmia and severe cardiac events","Adulthood","Referral to specialists for surveillance and early management","Neonatal",2,3,2,3,2,{"$f":"SUM(J587:N587)","v":12},1,null,"B"]
["RDX",179410,"Deafness, autosomal recessive 24",611022,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,1,{"$f":"SUM(J588:N588)","v":11},1,null,"C"]
["RET",164761,"Multiple endocrine neoplasia IIA / Multiple endocrine neoplasia IIB","171400, 162300","AD","Medullary thyroid cancer","Variable","Referral to specialists for surveillance and preemptive management","Childhood",2,3,3,2,3,{"$f":"SUM(J589:N589)","v":13},1,null,"A"]
["RIT1",609591,"Noonan syndrome 8",615355,"AD","Hypertrophic cardiomyopathy","Infant","Referral to specialists for surveillance and early management","Infant",2,3,2,2,2,{"$f":"SUM(J590:N590)","v":11},1]
["RPL11",604175,"Diamond-Blackfan anemia 7",612562,"AD","Anemia","Infant","Referral to specialists for surveillance and early management","Infant",1,3,2,3,2,{"$f":"SUM(J591:N591)","v":11},1,null,"A"]
["RPL15",604174,"?Diamond-Blackfan anemia 12",615550,"AD","Anemia","Infant","Referral to specialists for surveillance and early management","Infant",1,3,2,3,0,{"$f":"SUM(J592:N592)","v":9},2]
["RPL26",603704,"?Diamond-Blackfan anemia 11",614900,"AD","Anemia","Infant","Referral to specialists for surveillance and early management","Infant",1,3,2,3,0,{"$f":"SUM(J593:N593)","v":9},2]
["RPL27",607526,"?Diamond-Blackfan anemia 16",617408,"AD","Anemia","Infant","Referral to specialists for surveillance and early management","Infant",1,3,2,3,0,{"$f":"SUM(J594:N594)","v":9},2]
["RPL31","N/A","Diamond-Blackfan anemia","N/A","AD","Anemia","Infant","Referral to specialists for surveillance and early management","Infant",1,3,2,3,0,{"$f":"SUM(J595:N595)","v":9},2]
["RPL35A",180468,"Diamond-Blackfan anemia 5",612528,"AD","Anemia","Infant","Referral to specialists for surveillance and early management","Infant",1,3,2,3,2,{"$f":"SUM(J596:N596)","v":11},1,null,"C"]
["RPL5",603634,"Diamond-Blackfan anemia 6",612561,"AD","Anemia","Infant","Referral to specialists for surveillance and early management","Infant",1,3,2,3,2,{"$f":"SUM(J597:N597)","v":11},1]
["RPS10",603632,"Diamond-Blackfan anemia 9",613308,"AD","Anemia","Infant","Referral to specialists for surveillance and early management","Infant",1,3,2,3,2,{"$f":"SUM(J598:N598)","v":11},1,null,"\\C"]
["RPS17",180472,"Diamond-Blackfan anemia 4",612527,"AD","Anemia","Infant","Referral to specialists for surveillance and early management","Infant",1,3,2,3,2,{"$f":"SUM(J599:N599)","v":11},1,null,"A"]
["RPS19",603474,"Diamond-Blackfan anemia 1",105650,"AD","Anemia","Infant","Referral to specialists for surveillance and early management","Infant",1,3,2,3,3,{"$f":"SUM(J600:N600)","v":12},1,null,"A"]
["RPS24",602412,"Diamond-blackfan anemia 3",610629,"AD","Anemia","Infant","Referral to specialists for surveillance and early management","Infant",1,3,2,3,2,{"$f":"SUM(J601:N601)","v":11},1,null,"A"]
["RPS26",603701,"Diamond-Blackfan anemia 10",613309,"AD","Anemia","Infant","Referral to specialists for surveillance and early management","Infant",1,3,2,3,2,{"$f":"SUM(J602:N602)","v":11},1,null,"A"]
["RPS27",603702,"?Diamond-Blackfan anemia 17",617409,"AD","Anemia","Infant","Referral to specialists for surveillance and early management","Infant",1,3,2,3,0,{"$f":"SUM(J603:N603)","v":9},2]
["RPS28",603685,"Diamond Blackfan anemia 15 with mandibulofacial dysostosis",606164,"AD","Anemia","Infant","Referral to specialists for surveillance and early management","Infant",1,3,2,3,0,{"$f":"SUM(J604:N604)","v":9},2]
["RPS29",603633,"Diamond-Blackfan anemia 13",615909,"AD","Anemia","Infant","Referral to specialists for surveillance and early management","Infant",1,3,2,3,1,{"$f":"SUM(J605:N605)","v":10},1]
["RPS7",603658,"Diamond-Blackfan anemia 8",612563,"AD","Anemia","Infant","Referral to specialists for surveillance and early management","Infant",1,3,2,3,0,{"$f":"SUM(J606:N606)","v":9},2,null,"C"]
["RSPH1",609314,"Ciliary dyskinesia, primary, 24",615481,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,2,{"$f":"SUM(J607:N607)","v":10},1]
["RSPH3",615876,"Ciliary dyskinesia, primary, 32",616481,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,1,{"$f":"SUM(J608:N608)","v":9},1]
["RSPH4A",612647,"Ciliary dyskinesia, primary, 11",612649,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,2,{"$f":"SUM(J609:N609)","v":10},1,null,"A"]
["RSPH9",612648,"Ciliary dyskinesia, primary, 12",612650,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,1,{"$f":"SUM(J610:N610)","v":9},1,null,"A"]
["RUNX1",151385,"Platelet disorder, familial, with associated myeloid malignancy",601399,"AD","Myeloid malignancy","Birth","Referral to specialists for surveillance and preemptive management ","Neonatal",2,2,1,3,2,{"$f":"SUM(J611:N611)","v":10},2]
["RYR1",180901,"Malignant hyperthermia susceptibility",145600,"AD","Anesthesia-induced malignant hyperthermia","Variable","Referral to specialists for surveillance and preemptive management ","Neonatal",2,1,3,3,3,{"$f":"SUM(J612:N612)","v":12},1,null,"B"]
["RYR2",180902,"Arrhythmia (Catecholaminergic polymorphic ventricular tachycardia / Arrhythmogenic Right Ventricular Dysplasia 2)",604772,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and preemptive management","Variable",3,2,2,2,2,{"$f":"SUM(J613:N613)","v":11},1,null,"A"]
["S1PR2",605111,"Deafness, autosomal recessive 68",610419,"AR","Communication deficits","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,1,{"$f":"SUM(J614:N614)","v":11},1]
["SCN1B",600235,"Brugada Syndrome 5 / Cardiac conduction defect, nonspecific",612838,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Neonatal",2,3,2,2,2,{"$f":"SUM(J615:N615)","v":11},1,null,"C"]
["SCN3B",608214,"Brugada Syndrome 7 / Atrial fibrillation, familial, 16",613120,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Neonatal",2,0,2,2,1,{"$f":"SUM(J616:N616)","v":7},2,null,"C"]
["SCN4A",603967,"Hyperkalemic periodic paralysis, type 2",170500,"AD","Episodic weakness and progressive myopathy","Infant","Referral to specialists for surveillance and preemptive management ","Neonatal",1,3,3,3,2,{"$f":"SUM(J617:N617)","v":12},1,null,"C"]
["SCN4B",608256,"Long QT syndrome-10",611819,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Neonatal",2,3,2,2,1,{"$f":"SUM(J618:N618)","v":10},1,null,"C"]
["SCN5A",600163,"Arrhythmia, Cardiomyopathy (Romano-Ward Long QT syndrome 3 / Brugada Syndrome / Dilated, IE)",603830,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and preemptive management","Neonatal",3,2,2,2,3,{"$f":"SUM(J619:N619)","v":12},1,null,"B"]
["SCNN1A",600228,"Pseudohypoaldosteronism, type I",264350,"AR","Hyponatremia","Neonatal","Referral to specialists for surveillance and preemptive management ","Neonatal",3,3,3,3,3,{"$f":"SUM(J620:N620)","v":15},1,null,"A"]
["SCNN1A",600228,"Bronchiectasis with or without elevated sweat chloride 2",613021,"AD","Bronchiectasis and chronic bronchitis","Variable","Referral to specialists for surveillance and early management","Neonatal",2,0,2,2,0,{"$f":"SUM(J621:N621)","v":6},2]
["SCNN1B",600760,"Pseudohypoaldosteronism, type I",264350,"AR","Hyponatremia","Neonatal","Referral to specialists for surveillance and preemptive management ","Neonatal",3,3,3,3,2,{"$f":"SUM(J622:N622)","v":14},1,null,"A"]
["SCNN1B",600760,"Liddle Syndrome",177200,"AD","Syndromic manifestations","Childhood","Referral to specialists for surveillance and preemptive management ","Neonatal",2,3,3,3,2,{"$f":"SUM(J623:N623)","v":13},1]
["SCNN1G",600761,"Pseudohypoaldosteronism, type I",264350,"AR","Hyponatremia","Neonatal","Referral to specialists for surveillance and preemptive management ","Neonatal",3,3,3,3,2,{"$f":"SUM(J624:N624)","v":14},1,null,"C"]
["SCNN1G",600761,"Liddle Syndrome",177200,"AD","Syndromic manifestations","Childhood","Referral to specialists for surveillance and preemptive management ","Neonatal",2,3,3,3,2,{"$f":"SUM(J625:N625)","v":13},1]
["SDHA",600857,"Paragangliomas 5",614165,"AD","Syndromic manifestations","Adulthood","Referral to specialists for surveillance and/or preemptive management","Childhood",1,3,2,2,0,{"$f":"SUM(J626:N626)","v":8},2]
["SDHAF2",613019,"Hereditary Paraganglioma-Pheochromocytoma Syndrome 2",601650,"AD","Syndromic manifestations","Adulthood","Referral to specialists for surveillance and early management","Childhood",1,3,2,2,0,{"$f":"SUM(J627:N627)","v":8},2,null,"B"]
["SDHB",185470,"Hereditary Paraganglioma-Pheochromocytoma Syndrome 4",115310,"AD","Malignant pheochromocytoma / paraganglioma","Adulthood","Referral to specialists for surveillance and/or preemptive management","Childhood",2,3,3,2,3,{"$f":"SUM(J628:N628)","v":13},1,null,"B"]
["SDHC",602413,"Hereditary Paraganglioma-Pheochromocytoma Syndrome 3",605373,"AD","Syndromic manifestations","Adulthood","Referral to specialists for surveillance and early management","Childhood",1,3,2,2,1,{"$f":"SUM(J629:N629)","v":9},1,null,"B"]
["SDHD",602690,"Hereditary Paraganglioma-Pheochromocytoma Syndrome 1",168000,"AD","Syndromic manifestations","Adulthood","Referral to specialists for surveillance and early management","Childhood",1,3,2,2,2,{"$f":"SUM(J630:N630)","v":10},1,null,"A"]
["SERPINA1",107400,"Emphysema-cirrhosis, due to AAT deficiency",613490,"AR","Syndromic manifestations","Adulthood","Referral to specialists for surveillance and early management","Adulthood",2,3,1,3,3,{"$f":"SUM(J631:N631)","v":12},3,null,"C"]
["SERPINB6",173321,"?Deafness, Autosomal Recessive 91",613453,"AR","Communication deficits","Adulthood","Referral to specialists for surveillance and preemptive management","Adulthood",0,3,3,3,0,{"$f":"SUM(J632:N632)","v":9},3,null,"C"]
["SERPINC1",107300,"Thrombophilia due to antithrombin III deficiency",613118,"Multiple and/or complex pattern","Thrombosis","Adulthood","Referral to specialists for surveillance and preemptive management ","Adolescent",1,3,2,3,2,{"$f":"SUM(J633:N633)","v":11},1,null,"C"]
["SFTPA1",178630,"{Pulmonary fibrosis, idiopathic, susceptibility to} / Pulmonary fibrosis",178500,"AD","Pulmonary fibrosis and pneumonia","Adulthood","Referral to specialists for surveillance and supportive care","N / A",2,0,0,0,0,{"$f":"SUM(J634:N634)","v":2},4]
["SFTPA2",178642,"Pulmonary Fibrosis",178500,"AD","Pulmonary fibrosis and pneumonia","Adulthood","Referral to specialists for surveillance and supportive care","N / A",2,0,0,0,1,{"$f":"SUM(J635:N635)","v":3},4,null,"C"]
["SFTPB",178640,"Surfactant metabolism dysfunction, pulmonary, 1",265120,"AR","Respiratory distress / failure","Birth","Referral to specialists for surveillance and early management","Neonatal",3,3,1,1,2,{"$f":"SUM(J636:N636)","v":10},2,null,"A"]
["SFTPC",178620,"Surfactant metabolism dysfunction, pulmonary, 2",610913,"AD","Respiratory distress / failure","Variable","Referral to specialists for surveillance and early management","Variable",1,3,2,2,2,{"$f":"SUM(J637:N637)","v":10},2,null,"C"]
["SFTPD",178635,"Pulmonary Fibrosis, Surfactant Dysfunction",178635,"AD","Pulmonary fibrosis and pneumonia","Adulthood","Referral to specialists for surveillance and supportive care","N / A",2,0,0,0,0,{"$f":"SUM(J638:N638)","v":2},4]
["SGCD",601411,"Cardiomyopathy, dilated, 1L",606685,"AD","Arrhythmia and severe cardiac events","Adolecent ","Referral to specialists for surveillance and early management","Neonatal",0,0,2,3,0,{"$f":"SUM(J639:N639)","v":5},2,null,"C"]
["SGSH",605270,"Mucopolysaccharidisis type IIIA (Sanfilippo A)",252900,"AR","Neurodegeneration","Childhood","Referral to specialists for surveillance and supportive care","N / A",2,3,0,0,2,{"$f":"SUM(J640:N640)","v":7},2,null,"A"]
["SIX1",601205,"Branchio-oto-renal related disorders",608389,"AD","Syndromic manifestations","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,2,{"$f":"SUM(J641:N641)","v":12},1,null,"A"]
["SLC17A5",604322,"Sialic acid storage disorder, infantile",269920,"AR","Syndromic manifestations","Infant","Referral to specialists for surveillance and supportive care","N / A",3,3,0,0,2,{"$f":"SUM(J642:N642)","v":8},2,null,"A"]
["SLC17A8",607557,"Deafness, autosomal dominant 25",605583,"AD","Communication deficits","Adulthood","Referral to specialists for surveillance and preemptive management","Adolescent",0,3,3,3,1,{"$f":"SUM(J643:N643)","v":10},2]
["SLC19A2",603941,"Thiamine-responsive megaloblastic anemia syndrome",249270,"AR","Syndromic manifestations","Childhood","Referral to specialists for surveillance and early management","Childhood",1,3,3,3,2,{"$f":"SUM(J644:N644)","v":12},1,null,"A"]
["SLC19A3",606152,"Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)",607483,"AR","Encephalopathy","Childhood","Referral to specialists for surveillance and preemptive management ","Neonatal",2,3,3,3,2,{"$f":"SUM(J645:N645)","v":13},1,null,"A"]
["SLC22A4",604190,"Deafness, autosomal recessive","N/A","AR","Communication deficits","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,1,11,2]
["SLC22A5",603377,"Carnitine deficiency, systemic primary",212140,"AR","Metabolic decompensation","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",1,1,3,3,2,{"$f":"SUM(J647:N647)","v":10},1,"Core","A"]
["SLC25A13",603859,"Citrullinemia, type II, neonatal-onset ",605814,"AR","Failure to thrive and cirrhosis","Neonatal","Referral to specialists for surveillance and dietary management","Neonatal",1,2,2,3,2,{"$f":"SUM(J648:N648)","v":10},1,"Secondary","A"]
["SLC25A13",603859,"Citrullinemia, type II, adult-onset",603471,"AR","Liver failure","Adulthood","Referral to specialists for surveillance and supportive care","N / A",2,0,0,0,1,{"$f":"SUM(J649:N649)","v":3},4]
["SLC25A15",603861,"Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome",238970,"AR","Neurocognitive deficits","Variable","Referral to specialists for surveillance and dietary management","Variable",1,3,2,2,2,{"$f":"SUM(J650:N650)","v":10},1,null,"A"]
["SLC25A20",212138,"Carnitine-Acylcarnitine Translocase Deficiency ",212138,"AR","Hypoglycemia","Neonatal","Referral to specialists for surveillance and dietary management","Neonatal",2,3,3,3,2,{"$f":"SUM(J651:N651)","v":13},1,"Secondary","A"]
["SLC26A4",605646,"Pendred syndrome / Deafness, autosomal recessive 4, with enlarged vestibular aqueduct; ",600791,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,3,{"$f":"SUM(J652:N652)","v":13},1,null,"A"]
["SLC2A1",138140,"Dystonia 9, GLUT1 deficiency syndromes 1 and 2, autosomal recessive",606777,"AR","Dystonia and syndromic manifestations","Infant","Referral to specialists for surveillance and dietary management","Neonatal",2,3,2,2,2,{"$f":"SUM(J653:N653)","v":11},1]
["SLC2A1",138140,"Dystonia 9, GLUT1 deficiency syndromes 1 and 2, autosomal dominant",612126,"AD","Dystonia and syndromic manifestations","Infant","Referral to specialists for surveillance and dietary management","Neonatal",2,3,2,2,2,{"$f":"SUM(J654:N654)","v":11},1,null,"A"]
["SLC2A9",606142,"Hypouricemia, renal, 2",612076,"AR","Hypouricemia and exercise-induced acute renal failure","Adolescent","Referral to specialists for surveillance and early management","Adolescent",1,2,2,3,2,{"$f":"SUM(J655:N655)","v":10},1]
["SLC37A4",602671,"Glycogen Storage Disease Ib/Ic",232220,"AR","Syndromic manifestations","Infant","Referral to specialists for surveillance and early management","Infant",2,3,3,2,3,{"$f":"SUM(J656:N656)","v":13},1,null,"A"]
["SLC39A4",607059,"Acrodermatitis enteropathica ",201100,"AR","Syndromic manifestations","Neonatal","Referral to specialists for surveillance and preemptive management ","Neonatal",2,3,3,3,2,{"$f":"SUM(J657:N657)","v":13},1,null,"A"]
["SLC3A1",104614,"Cystinuria",220100,"Multiple and/or complex pattern","Renal calculi","Childhood","Referral to specialists for surveillance, early management","Infant",1,3,1,3,2,{"$f":"SUM(J658:N658)","v":10},2,null,"A"]
["SLC40A1",604653,"Hemochromatosis, type 4",606069,"AD","Iron overload","Adulthood","Referral to specialists for surveillance and preemptive management","Adulthood",1,2,2,3,1,{"$f":"SUM(J659:N659)","v":9},3]
["SLC46A1",611672,"Folate malabsorption, hereditary",229050,"AR","Anemia and hypogammaglobulinemia","Infant","Referral to specialists for surveillance and dietary management","Neonatal",2,3,2,2,2,{"$f":"SUM(J660:N660)","v":11},1,null,"A"]
["SLC5A5",601843,"Thyroid dyshormonogenesis 1",274400,"AR","Hypothyroidism","Infant","Referral to specialists for surveillance and preemptive management ","Neonatal",2,3,3,3,2,{"$f":"SUM(J661:N661)","v":13},1,null,"A"]
["SLC6A8",300036,"Cerebral creatine deficiency syndrome 1, X-linked",300352,"X-linked","Intellectual disability and seizures","Infant","Referral to specialists for surveillance and supportive care","Neonatal",1,3,0,0,2,{"$f":"SUM(J662:N662)","v":6},2,null,"A"]
["SLC7A7",603593,"Lysinuric protein intolerance",222700,"AR","Gastrointestinal intolerance","Infant","Referral to specialists for surveillance and preemptive management ","Infant",1,3,2,3,3,{"$f":"SUM(J663:N663)","v":12},1,null,"A"]
["SLC7A9",604144,"Cystinuria",220100,"Multiple and/or complex pattern","Renal calculi","Childhood","Referral to specialists for surveillance, early management","Infant",1,3,1,3,2,{"$f":"SUM(J664:N664)","v":10},2,null,"A"]
["SLITRK6",609681,"Deafness and myopia",221200,"AR","Communication deficits","Infant","Referral to specialists for surveillance and preemptive management","Infant",1,3,3,3,2,{"$f":"SUM(J665:N665)","v":12},1]
["SLX4",613278,"Fanconi anemia, complementation group P",613951,"AR","Bone marrow dysfunction and multi-system disease","Childhood","Referral to specialists for surveillance and early management","Infant",2,3,2,2,0,{"$f":"SUM(J666:N666)","v":9},2]
["SMAD3",603109,"Loeys-Dietz Syndrome 3",613795,"AD","Aortic dissection","Adulthood","Referral to specialists for surveillance and early management","Childhood",2,3,2,3,2,{"$f":"SUM(J667:N667)","v":12},1,null,"A"]
["SMAD4",600993,"Juvenile polyposis / hereditary hemorrhagic telangiectasia syndrome",175050,"AD","Syndromic manifestations","Infant","Referral to specialists for surveillance and early management","Infant",2,3,2,2,3,{"$f":"SUM(J668:N668)","v":12},1,null,"A"]
["SMAD9",603295,"Pulmonary hypertension, primary, 2",615342,"AD","Pulmonary hypertension","Variable","Referral to specialists for surveillance and early management","Childhood",2,0,1,2,0,{"$f":"SUM(J669:N669)","v":5},2,null,"C"]
["SMPD1",607608,"Niemann-Pick Disease, Type B",607616,"AR","Hepatomegaly and respiratory infection","Childhood","Referral to specialists for surveillance and supportive care","N / A",2,3,0,0,3,{"$f":"SUM(J670:N670)","v":8},2,null,"A"]
["SMPD1",607608,"Niemann-Pick Disease, Type A",257200,"AR","Neurodegeneration","Infant","Referral to specialists for surveillance and supportive care","N / A",3,3,0,0,3,{"$f":"SUM(J671:N671)","v":9},2,null,"A"]
["SMPX",300226,"Deafness, X-Linked 4 (Affected hemizygous males and homozygous females)",300066,"X-linked","Communication deficits","Childhood","Referral to specialists for surveillance and preemptive management","Infant",1,3,3,3,1,{"$f":"SUM(J672:N672)","v":11},1,null,"A"]
["SMPX",300226,"Deafness, X-Linked 4 (Carrier Females)",300066,"X-linked","Communication deficits","Variable","Referral to specialists for surveillance and preemptive management","Variable",1,0,3,3,1,{"$f":"SUM(J673:N673)","v":8},2]
["SNAI2",602150,"Waardenburg Syndrome, type 2D",608890,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,0,{"$f":"SUM(J674:N674)","v":10},1]
["SNTA1",601017,"Long QT syndrome 12",612955,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Neonatal",2,0,2,2,0,{"$f":"SUM(J675:N675)","v":6},2,null,"B"]
["SOX10",602229,"Waardenburg syndrome, type 4C / type 2E",613266,"AD","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,3,{"$f":"SUM(J676:N676)","v":13},1,null,"A"]
["SOX10",602229,"PCWH Syndrome",609136,"AD","Neurologic involvement","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",2,3,1,3,1,{"$f":"SUM(J677:N677)","v":10},2]
["SPAG1",603395,"Ciliary dyskinesia, primary, 28",615505,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,2,{"$f":"SUM(J678:N678)","v":10},1]
["SPR",182125,"Dystonia, dopa-responsive, due to sepiapterin reductase deficiency",612716,"AR","Dystonia","Infant","Referral to specialists for surveillance and preemptive management ","Neonatal",1,3,3,3,2,{"$f":"SUM(J679:N679)","v":12},1,null,"A"]
["SRY",480000,"46XY sex reversal 1",400044,"Y-linked","Gonadoblastoma","Childhood","Referral to specialists for surveillance and early management","Infant",2,2,3,2,3,{"$f":"SUM(J680:N680)","v":12},1]
["STAR",600617,"Lipoid adrenal hyperplasia",201710,"AR","Salt-wasting crises","Neonatal","Referral to specialists for surveillance and preemptive management ","Neonatal",3,3,3,3,2,{"$f":"SUM(J681:N681)","v":14},1]
["STAT3",102582,"Atopic & eosinophilic disease, Hyper‐IgE recurrent infection syndrome",147060,"AD","Sinopulmonary infections and pneumatocele formation","Infant","Referral to specialists for surveillance and preemptive management","Infant",2,3,2,2,3,{"$f":"SUM(J682:N682)","v":12},1,null,"A"]
["STK11",602216,"Peutz-Jeghers Syndrome",175200,"AD","Gastrointestinal Cancer","Adulthood","Referral to specialists for surveillance and/or preemptive management","Childhood",2,3,2,2,3,{"$f":"SUM(J683:N683)","v":12},1,null,"A"]
["STRC",606440,"Deafness, autosomal recessive 16",603720,"AR","Communication deficits","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,2,{"$f":"SUM(J684:N684)","v":12},1,null,"A"]
["SUCLA2",603921,"Mitochondrial DNA Depletion Syndrome 5 (Encephalomyopathic with or without Methylmalonic Aciduria)",612073,"AR","Encephalomyopathy","Infant","Referral to specialists for surveillance and supportive care","Neonatal",2,3,0,0,2,{"$f":"SUM(J685:N685)","v":7},2,null,"A"]
["SUCLG1",611224,"Mitochondrial DNA Depletion Syndrome 9 (Encephalomyopathic type with Methylmalonic Aciduria)",245400,"AR","Encephalomyopathy","Infant","Referral to specialists for surveillance and supportive care","Neonatal",3,3,0,0,1,{"$f":"SUM(J686:N686)","v":7},2,null,"A"]
["SUMF1",607939,"Multiple Sulfatase Deficiency",272200,"AR","Syndromic manifestations","Infant","Referral to specialists for surveillance and supportive care","N / A",3,3,0,0,1,{"$f":"SUM(J687:N687)","v":7},2]
["SYNE4",615535,"Deafness, autosomal recessive 76",615540,"AR","Communication deficits","Birth - Childhood","Referral to specialists for surveillance and preemptive management","Variable",1,3,3,3,1,{"$f":"SUM(J688:N688)","v":11},2,null,"C"]
["TAT",613018,"Tyrosinemia, type II",276600,"AR","Tyrosinemia manifestations","Infant","Referral to specialists for surveillance and dietary management","Neonatal",1,3,3,2,2,{"$f":"SUM(J689:N689)","v":11},1,"Secondary","A"]
["TAZ",300394,"Barth Syndrome",302060,"X-linked","Arrhythmia and severe cardiac events","Birth","Referral to specialists for surveillance and early management","Neonatal",2,3,2,3,2,{"$f":"SUM(J690:N690)","v":12},1,"Secondary","A"]
["TBC1D24",613577,"Deafness, autosomal recessive 86",614617,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,1,{"$f":"SUM(J691:N691)","v":11},1,null,"A"]
["TBC1D24",613577,"Deafness, autosomal dominant 65",616044,"AD","Communication deficits","Adulthood","Referral to specialists for surveillance and preemptive management","Adulthood",0,3,3,3,1,{"$f":"SUM(J692:N692)","v":10},4]
["TBX19",604614,"Adrenocorticotropic hormone deficiency",201400,"AR","Hypoglycemia","Neonatal","Referral to specialists for surveillance and preemptive management ","Neonatal",2,3,3,3,2,{"$f":"SUM(J693:N693)","v":13},1]
["TCAP",604488,"Cardiomyopathy, Familial Hypertrophic, 25",607487,"AD","Arrhythmia and severe cardiac events","Adulthood","Referral to specialists for surveillance and early management","Neonatal",2,3,2,3,1,{"$f":"SUM(J694:N694)","v":11},1,null,"A"]
["TCN2",613441,"Transcobalamin II deficiency",275350,"AR","Failure to thrive","Infant","Referral to specialists for surveillance and preemptive management ","Neonatal",1,2,3,3,2,{"$f":"SUM(J695:N695)","v":11},1]
["TCOF1",606847,"Treacher Collins syndrome 1",154500,"AD","Communication deficits","Neonatal","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,2,3,2,{"$f":"SUM(J696:N696)","v":11},1,null,"A"]
["TECTA",602574,"Deafness, autosomal recessive 21 (DFNB21)",603629,"AR","Communication deficits","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,2,{"$f":"SUM(J697:N697)","v":12},1,null,"A"]
["TECTA",602574,"Deafness, autosomal dominant 8/12 (DFNA12)",601543,"AD","Communication deficits","Childhood","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,3,{"$f":"SUM(J698:N698)","v":13},1]
["TERC",602322,"Dyskeratosis congenita, autosomal dominant 1 / Pulmonary fibrosis",127550,"AD","Syndromic manifestations","Adulthood","Referral to specialists for surveillance and early management","Neonatal",2,2,1,1,1,{"$f":"SUM(J699:N699)","v":7},2,null,"B"]
["TERT",187270,"{Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1} / Pulmonary Fibrosis",614742,"AD","Pulmonary fibrosis and pneumonia","Adulthood","Referral to specialists for surveillance and supportive care","Adulthood",1,2,0,0,1,{"$f":"SUM(J700:N700)","v":4},4,null,"B"]
["TFR2",604720,"Hemochromatosis, type 3",604250,"AR","Iron overload","Adulthood","Referral to specialists for surveillance and preemptive management","Adolescent",1,3,3,3,2,{"$f":"SUM(J701:N701)","v":12},1,null,"C"]
["TG",188450,"Thyroid dyshormonogenesis 3",274700,"AR","Hypothyroidism","Infant","Referral to specialists for surveillance and preemptive management ","Neonatal",2,3,3,3,3,{"$f":"SUM(J702:N702)","v":14},1,null,"A"]
["TGFB2",190220,"Loeys-Dietz Syndrome 4",614816,"AD","Aortic dissection","Adulthood","Referral to specialists for surveillance and early management","Childhood",2,3,2,3,1,{"$f":"SUM(J703:N703)","v":11},1]
["TGFB3",190230,"Arrhythmogenic right ventricular cardiomyopathy 1",107970,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Childhood",2,0,2,2,0,{"$f":"SUM(J704:N704)","v":6},2,null,"C"]
["TGFB3",190230,"Loeys-Dietz Syndrome 5",107970,"AD","Arrhythmia and severe cardiac events","Adolescent","Referral to specialists for surveillance and early management","Childhood",2,2,3,3,2,{"$f":"SUM(J705:N705)","v":12},1]
["TGFBR1",190181,"Loeys-Dietz Syndrome 1",609192,"AD","Aortic dissection","Variable","Referral to specialists for surveillance and early management","Childhood",2,3,1,2,3,{"$f":"SUM(J706:N706)","v":11},1]
["TGFBR2",190182,"Loeys-Dietz Syndrome 2",610168,"AD","Aortic dissection","Variable","Referral to specialists for surveillance and early management","Childhood",2,3,1,2,3,{"$f":"SUM(J707:N707)","v":11},1,null,"A"]
["TH",191290,"Segawa syndrome, recessive",605407,"AR","Intellectual disability and psychomotor degeneration","Infant","Referral to specialists for surveillance and preemptive management ","Neonatal",2,3,3,3,2,{"$f":"SUM(J708:N708)","v":13},1,null,"A"]
["THRA",190120,"Hypothyroidism, congenital, nongoitrous, 6",614450,"AD","Congenital hypothyroidism","Neonatal","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,2,3,0,{"$f":"SUM(J709:N709)","v":9},1,null,"A"]
["TIMM8A",300356,"Mohr-Tranebjaerg syndrome / Dystonia-deafness syndrome",304700,"X-linked","Syndromic manifestations","Infant","Referral to specialists for surveillance and supportive care","Neonatal",2,3,0,0,2,{"$f":"SUM(J710:N710)","v":7},2,null,"A"]
["TINF2",604319,"Dyskeratosis congenita, autosomal dominant 3 / Revesz syndrome","613990,  268130","AD","Bone marrow failure","Variable","Referral to specialists for surveillance and early management","Variable",2,3,1,2,2,{"$f":"SUM(J711:N711)","v":10},2,null,"B"]
["TMC1",606706,"Deafness, Autosomal Recessive 7",600974,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,2,{"$f":"SUM(J712:N712)","v":12},1,null,"A"]
["TMC1",606706,"Deafness, Autosomal Dominant 36",606705,"AD","Communication deficits","Childhood","Referral to specialists for surveillance and preemptive management","Childhood",1,3,3,3,1,{"$f":"SUM(J713:N713)","v":11},2]
["TMEM127",613403,"{Pheochromocytoma, susceptibility to}",171300,"AD","Syndromic manifestations","Adulthood","Referral to specialists for surveillance and/or preemptive management","Childhood",1,3,2,2,0,{"$f":"SUM(J714:N714)","v":8},2]
["TMEM43",612048,"Arrhythmogenic right ventricular cardiomyopathy 5",604400,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Childhood",2,3,2,2,2,{"$f":"SUM(J715:N715)","v":11},1,null,"A"]
["TMIE",607237,"Deafness, autosomal recessive 6",600971,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,2,{"$f":"SUM(J716:N716)","v":12},1,null,"A"]
["TMPO",188380,"?Cardiomyopathy, dilated, 1T",115200,"AD","Arrhythmia and severe cardiac events","Adulthood","Referral to specialists for surveillance and early management","Neonatal",0,0,2,3,0,{"$f":"SUM(J717:N717)","v":5},2,null,"C"]
["TMPRSS3",605511,"Deafness, autosomal recessive 8/10",601072,"AR","Communication deficits","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,2,{"$f":"SUM(J718:N718)","v":12},1,null,"A"]
["TNNC1",191040,"Cardiomyopathy (Hypertrophic 13, dilated, 1Z)",613243,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Neonatal",2,3,2,3,2,{"$f":"SUM(J719:N719)","v":12},1,null,"B"]
["TNNI3",191044,"Cardiomyopathy (Hypertrophic 7, dilated 1FF, ?dilated 2A)",613690,"Multiple and/or complex pattern","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Neonatal",2,3,2,3,3,{"$f":"SUM(J720:N720)","v":13},1,null,"B"]
["TNNT2",191045,"Cardiomyopathy (Familial hypertrophic 2, Dilated 1D)",115195,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Neonatal",2,3,2,3,3,{"$f":"SUM(J721:N721)","v":13},1,null,"B"]
["TP53",191170,"Li-Fraumeni syndrome",151623,"AD","Syndromic manifestations","Adolescent","Referral to specialists for surveillance and early management","Childhood",2,3,2,2,2,{"$f":"SUM(J722:N722)","v":11},1,null,"A"]
["TPM1",191010,"Cardiomyopathy (Hypertrophic 3, Dilated IY)",115196,"AD","Arrhythmia and severe cardiac events","Variable","Referral to specialists for surveillance and early management","Neonatal",2,3,2,3,2,{"$f":"SUM(J723:N723)","v":12},1,null,"B"]
["TPO",606765,"Thyroid dyshormonogenesis 2A",274500,"AR","Hypothyroidism","Infant","Referral to specialists for surveillance and preemptive management ","Neonatal",2,3,3,3,3,{"$f":"SUM(J724:N724)","v":14},1,null,"A"]
["TPP1",607998,"Ceroid lipofuscinosis, neuronal, 2 (CLN2)",204500,"AR","Neurodegeneration and retinal degeneration","Childhood","Referral to specialists for surveillance and supportive care","N / A",3,3,0,0,3,{"$f":"SUM(J725:N725)","v":9},2,null,"A"]
["TPRN",613354,"Deafness, autosomal recessive 79",613307,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,2,{"$f":"SUM(J726:N726)","v":12},1,null,"C"]
["TRDN",603283,"Ventricular tachycardia, catecholaminergic polymorphic, 2",615441,"AR","Arrhythmia and severe cardiac events","Infant","Referral to specialists for surveillance and preemptive management","Infant",3,2,2,2,1,{"$f":"SUM(J727:N727)","v":10},1,null,"C"]
["TRHR",188545,"Thyrotropin-releasing hormone resistance, generalized",188545,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",0,3,3,3,0,{"$f":"SUM(J728:N728)","v":9},2,null,"C"]
["TRIOBP",609761,"Deafness, autosomal recessive 28",609823,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,2,{"$f":"SUM(J729:N729)","v":12},1,null,"A"]
["TSC1",605284,"Tuberous sclerosis-1",191100,"AD","Syndromic manifestations","Infant","Referral to specialists for surveillance and early management","Neonatal",2,3,1,3,3,{"$f":"SUM(J730:N730)","v":12},1,null,"A"]
["TSC2",191092,"Tuberous sclerosis-2",613254,"AD","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",2,3,1,3,3,{"$f":"SUM(J731:N731)","v":12},1,null,"A"]
["TSHB",188540,"Hypothyroidism, congenital, nongoitrous 4",275100,"AR","Intellectual disability and growth delay","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",2,3,2,3,3,{"$f":"SUM(J732:N732)","v":13},1,null,"A"]
["TSHR",603372,"Hypothyroidism, congenital, nongoitrous, 1",275200,"AR","Intellectual disability and growth delay","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",2,2,2,3,3,{"$f":"SUM(J733:N733)","v":12},1,null,"A"]
["TSPEAR",612920,"Deafness, autosomal recessive 98",614861,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,0,{"$f":"SUM(J734:N734)","v":10},2,null,"C"]
["TSR2",300945,"?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis",300946,"X-linked","Anemia","Infant","Referral to specialists for surveillance and early management","Infant",1,3,2,3,0,{"$f":"SUM(J735:N735)","v":9},2]
["TTC25",617095,"Ciliary dyskinesia, primary, 35",617092,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,1,{"$f":"SUM(J736:N736)","v":9},1]
["TTN",188840,"Cardiomyopathy (Familial Hypertrophic 9, dilated, 1G) and other myopathies",613765,"Multiple and/or complex pattern","Arrhythmia and severe cardiac events","Infant","Referral to specialists for surveillance and early management","Neonatal",2,2,2,3,2,{"$f":"SUM(J737:N737)","v":11},1,null,"A,B"]
["TTPA",600415,"Ataxia with isolated vitamin E deficiency",277460,"AR","Ataxia - progressive","Childhood","Referral to specialists for surveillance and dietary management","Infant",1,3,3,3,3,{"$f":"SUM(J738:N738)","v":13},1,null,"A"]
["TWNK / C10orf2",606075,"Perrault syndrome 5",616138,"AR","Syndromic manifestations","Childhood","Referral to specialists for surveillance and early management","Childhood",1,3,2,3,0,{"$f":"SUM(J739:N739)","v":9},2]
["UBE2T",610538,"Fanconi anemia, complementation group T",616435,"AR","Bone marrow dysfunction and multi-system disease","Childhood","Referral to specialists for surveillance and early management","Infant",2,3,2,2,0,{"$f":"SUM(J740:N740)","v":9},2]
["UNC13D",608897,"Hemophagocytic lymphohistiocytosis, familial, 3",608898,"AR","Severe inflammation and immune dysregulation","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",2,3,2,2,3,{"$f":"SUM(J741:N741)","v":12},1,null,"A"]
["USH1C",605242,"Deafness, autosomal recessive 18A",602092,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,0,{"$f":"SUM(J742:N742)","v":10},1]
["USH1C",605242,"Usher Syndrome, type 1C",276904,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",2,3,2,3,3,{"$f":"SUM(J743:N743)","v":13},1,null,"A"]
["USH1G",607696,"Usher Syndrome, type 1G",606943,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",2,3,2,3,2,{"$f":"SUM(J744:N744)","v":12},1,null,"A"]
["USH2A",608400,"Usher Syndrome, type 2A",276901,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,2,3,3,{"$f":"SUM(J745:N745)","v":12},1,null,"A"]
["VCL",193065,"Cardiomyopathy (Hypertrophic, 15, dilated, 1W)",613255,"AD","Arrhythmia and severe cardiac events","Adulthood","Referral to specialists for surveillance and early management","Neonatal",2,3,2,3,1,{"$f":"SUM(J746:N746)","v":11},1,null,"B"]
["VHL",608537,"von Hippel-Lindau syndrome ",193300,"AD","Syndromic manifestations","Adulthood","Referral to specialists for surveillance and/or preemptive management","Childhood",2,3,1,3,3,{"$f":"SUM(J747:N747)","v":12},1,null,"A"]
["VWF",613160,"von Willebrand disease, types 2A, 2B, 2M, and 2N",613554,"Multiple and/or complex pattern","Bleeding - mild to moderate mucocutaneous ","Variable","Referral to specialists for surveillance and preemptive management","Variable",1,2,3,3,3,{"$f":"SUM(J748:N748)","v":12},1]
["VWF",613160,"von Willibrand disease, type 3",277480,"AR","Bleeding - severe mucocutaneous and musculoskeletal ","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",2,3,3,3,2,{"$f":"SUM(J749:N749)","v":13},1]
["VWF",613160,"von Willebrand disease, type 1",193400,"AD","Bleeding - mild mucocutaneous ","Variable","Referral to specialists for surveillance and preemptive management","Variable",0,2,3,3,3,{"$f":"SUM(J750:N750)","v":11},1,null,"B"]
["WFS1",606201,"Wolfram Syndrome",222300,"AR","Syndromic manifestations","Birth / Childhood","Referral to specialists for surveillance and early management","Neonatal",1,3,1,3,3,{"$f":"SUM(J751:N751)","v":11},2,null,"A"]
["WFS1",606201,"Deafness, autosomal dominant 6/14/38",600965,"AD","Communication deficits","Adolescent","Referral to specialists for surveillance and preemptive management","Childhood",0,3,3,3,2,{"$f":"SUM(J752:N752)","v":11},2]
["WHRN",607928,"Usher Syndrome, type 2D",611383,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,2,3,1,{"$f":"SUM(J753:N753)","v":10},1]
["WT1",607102,"WT1-related Wilms",194070,"Multiple and/or complex pattern","Wilms tumor","Neonatal","Referral to specialists for surveillance and preemptive management","Neonatal",2,2,3,3,2,{"$f":"SUM(J754:N754)","v":12},1,null,"B"]
["ZAP70",176947,"Selective T-cell defect",269840,"AR","Recurrent infection","Infant","Referral to specialists for surveillance and preemptive management","Infant",3,3,3,3,2,{"$f":"SUM(J755:N755)","v":14},1,null,"A"]
["ZMYND10",607070,"Ciliary Dyskinesia, Primary, 22",615444,"AR","Syndromic manifestations","Birth","Referral to specialists for surveillance and early management","Neonatal",1,3,2,2,2,{"$f":"SUM(J756:N756)","v":10},1]