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{"sheet":"Not assigned","index":0,"n_rows":69,"n_cols":18,"rows_kept":69,"cut":false,"hidden":false,"merged":[[3,4,3,8],[4,4,4,8],[12,4,12,8],[15,4,15,8],[19,4,19,8],[20,4,20,8],[28,4,28,8],[33,4,33,8],[40,4,40,8],[44,4,44,8],[46,4,46,8],[51,4,51,8],[52,4,52,8],[55,4,55,8],[56,4,56,8],[61,4,61,8],[64,4,64,8],[65,4,65,8],[66,4,66,8],[67,4,67,8],[68,4,68,8]]}
["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"]
["AASS",605113,"Hyperlysinemia",238700,"AR","Neurologic involvement","Childhood","Referral to specialists for surveillance and supportive care","N/A",1,3,0,0,0,{"$f":"SUM(J2:N2)","v":4},"NR"]
["ACAD8",604773,"Isobutyryl-CoA Dehydrogenase Deficiency",611283,"AR","ICAD deficiency","Childhood","Referral to specialists for surveillance and supportive care","Infant",0,0,1,3,0,{"$f":"SUM(J3:N3)","v":4},"NR","Secondary","A"]
["ACADL",609576,"Long-chain acyl-CoA dehydrogenase (LCAD) deficiency",999999,"Extremely limited / controversial evidence",{"$nulls":9},"N/A","NR",null,"C"]
["ATP2B2",108733,"{Deafness, autosomal recessive 12, modifier of}",601386,"Extremely limited / controversial evidence",{"$nulls":9},"N/A","NR"]
["AUH",600529,"3-Methylglutaconic Aciduria, type I",250950,"AR","Leukoencephalopathy","Adult","Referral to specialists for surveillance and dietary management","Neonatal",1,0,0,0,0,{"$f":"SUM(J6:N6)","v":1},"NR","Secondary","A"]
["BDP1",607012,"Nonsyndromic hearing loss","N/A","AR","Communication deficits","Childhood","Referral to specialists for surveillance and preemptive management","Infant",0,3,3,3,0,{"$f":"SUM(J7:N7)","v":9},"NR"]
["CABP2",607314,"Deafness, autosomal recessive 93",614899,"AR","Communication deficits","Neonatal","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,0,{"$f":"SUM(J8:N8)","v":10},"NR"]
["CD164",603356,"?Deafness, autosomal dominant 66",616969,"AD","Communication deficits","Variable","Referral to specialists for surveillance and preemptive management","Variable",1,2,3,3,0,{"$f":"SUM(J9:N9)","v":9},"NR"]
["CDC14A",603504,"Deafness, autosomal recessive 105",616958,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Birth",1,3,3,3,0,{"$f":"SUM(J10:N10)","v":10},"NR"]
["CEMIP",608366,"?Deafness, Nonsyndromic","N/A","AR","Communication deficits","Variable","Referral to specialists for surveillance and preemptive management","Neonatal",1,0,3,3,0,{"$f":"SUM(J11:N11)","v":7},"NR"]
["CLIC5",607293,"?Deafness, autosomal recessive 103",616042,"AR","Communication deficits","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,0,{"$f":"SUM(J12:N12)","v":10},"NR"]
["CLN9",609055,"Ceroid Lipofuscinosis, neuronal, 9 (CLN9)","N/A","Extremely limited / controversial evidence",{"$nulls":9},"N/A","NR"]
["COL1A2",120160,"Osteogenesis imperfecta 2",166210,"AD","Osteogenesis imperfecta manifestations","Neonatal","Referral to specialists for surveillance and supportive care","N/A",3,3,0,0,3,{"$f":"SUM(J14:N14)","v":9},"NR",null,"A"]
["COL4A6",303631,"?Deafness, X-linked 6",300914,"X-linked","Communication deficits","Variable","Referral to specialists for surveillance and preemptive management","Variable",1,3,3,3,0,{"$f":"SUM(J15:N15)","v":10},"NR"]
["COL9A2",120260,"?Stickler syndrome ",614284,"Extremely limited / controversial evidence",{"$nulls":9},"N/A","NR"]
["COQ2",609825,"Coenzyme Q10 deficiency, primary, 1",607426,"AR","Syndromic manifestations","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",3,3,0,0,0,{"$f":"SUM(J17:N17)","v":6},"NR",null,"C"]
["COQ9",612837,"Coenzyme Q10 deficiency, primary, 5",614654,"AR","Syndromic manifestations","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",3,3,0,0,0,{"$f":"SUM(J18:N18)","v":6},"NR"]
["CRYM",123740,"Deafness, autosomal dominant 40",616357,"AD","Communication deficits","Infant","Referral to specialists for surveillance and supportive care","Neonatal",1,0,3,3,0,{"$f":"SUM(J19:N19)","v":7},"NR"]
["DCDC2",605755,"?Deafness, autosomal recessive 66",610212,"Extremely limited / controversial evidence",{"$nulls":9},"N/A","NR"]
["DECR1",222745,"Mitochondrial fatty acid oxidation",null,"Extremely limited / controversial evidence",{"$nulls":9},"N/A","NR",null,"C"]
["DIAPH3",609129,"Auditory neuropathy, autosomal dominant, 1",609129,"AD","Communication deficits","Adulthood","Referral to specialists for surveillance and preemptive management","Neonatal",0,0,3,3,0,{"$f":"SUM(J22:N22)","v":6},"NR"]
["ELMOD3",615427,"?Deafness, autosomal recessive 88",615429,"AR","Communication deficits","Neonatal","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,0,{"$f":"SUM(J23:N23)","v":10},"NR"]
["EPS8",600206,"?Deafness, autosomal recessive 102",615974,"AR","Communication deficits","Neonatal","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,0,{"$f":"SUM(J24:N24)","v":10},"NR"]
["EPS8L2",614988,"Deafness autosomal recessive 106",617637,"AR","Communication deficits","Childhood","Referral to specialists for surveillance and preemptive management","Infant",1,3,3,3,0,10,"NR"]
["FGFR3",134934,"LADD syndrome",149730,"AD","Communication deficits","Neonatal","Referral to specialists for surveillance and preemptive management","Neonatal",0,2,3,3,0,{"$f":"SUM(J26:N26)","v":8},"NR",null,"C"]
["FOXI1",601093,"Enlarged vestibular aqueduct",600791,"AR","Communication deficits","Neonatal","Referral to specialists for surveillance and preemptive management","Neonatal",0,0,3,3,0,{"$f":"SUM(J27:N27)","v":6},"NR"]
[]
["GFI1B",604383,"Bleeding disorder, platelet-type 17",187900,"Extremely limited / controversial evidence",{"$nulls":9},"N/A","NR"]
["GJB3",603324,"Non-Syndromic Deafness, Dominant 2B",612644,"AD","Communication deficits","Adulthood","Referral to specialists for surveillance and preemptive management","Adulthood",0,0,3,3,0,{"$f":"SUM(J30:N30)","v":6},"NR"]
["GJB3",603324,"Non-Syndromic Deafness, Recessive","N/A","AR","Communication deficits","Childhood","Referral to specialists for surveillance and preemptive management","Childhood",1,0,3,3,0,{"$f":"SUM(J31:N31)","v":7},"NR"]
["GJB6",604418,"Non-Syndromic Deafness, Dominant 3B",612643,"AD","Communication deficits","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",1,2,3,3,0,{"$f":"SUM(J32:N32)","v":9},"NR"]
["GRXCR2",615762,"?Deafness, autosomal recessive 101",615837,"AR","Communication deficits","Childhood","Referral to specialists for surveillance and preemptive management","Infant",1,3,3,3,0,10,"NR"]
["HBE1",142100,"Hemoglobin E - Beta-Thalassemia (theorized)","N/A","Extremely limited / controversial evidence",{"$nulls":9},"N/A","NR"]
["HOMER2",604799,"?Deafness, autosomal dominant 68",616707,"AD","Communication deficits","Childhood","Referral to specialists for surveillance and preemptive management","Infant",0,3,3,3,0,9,"NR"]
["INS",176730,"MODY, type X (MODY10)",613370,"AD","Diabetes mellitus","Adolescence","Referral to specialists for surveillance and preemptive management","Childhood",1,3,0,0,0,{"$f":"SUM(J36:N36)","v":4},"NR"]
["KITLG",184745,"Deafness, autosomal dominant 69, unilateral or asymmetric / Hyperpigmentation with or without hypopigmentation",616697,"AD","Communication deficits","Neonatal","Referral to specialists for surveillance and preemptive management","Neonatal",1,2,3,3,0,9,"NR"]
["LOXL3",607163,"Hearing loss with vision impairment",null,"AR","Communication deficits with vision impairment","Neonatal","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,0,10,"NR"]
["MCM2",116945,"?Deafness, autosomal dominant 70",616968,"AD","Communication deficits","Adolescent","Referral to specialists for surveillance and preemptive management","Childhood",0,3,0,0,0,3,"NR"]
["MET",164860,"?Deafness, autosomal recessive 97",616705,"AR","Communication deficits","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,0,10,"NR"]
["MYO1A",601478,"Deafness, autosomal dominant 48","N/A","Extremely limited / controversial evidence",{"$nulls":9},"N/A","NR"]
["NARS2","N/A","Nonsyndromic hearing loss","N/A","AR","Communication deficits","Infant","Referral to specialists for surveillance and preemptive management","Neonatal",1,0,3,3,0,{"$f":"SUM(J42:N42)","v":7},"NR"]
["PDSS1",607429,"Coenzyme Q10 deficiency, primary, 2",614651,"AR","Syndromic manifestations","Infant","Referral to specialists for surveillance and supportive care","Neonatal",1,3,0,0,0,{"$f":"SUM(J43:N43)","v":4},"NR",null,"C"]
["PDSS2",610564,"Coenzyme Q10 deficiency, primary, 3",614652,"AR","Syndromic manifestations","Infant","Referral to specialists for surveillance and supportive care","Neonatal",3,3,0,0,0,{"$f":"SUM(J44:N44)","v":6},"NR",null,"C"]
["PDZD7 w USH2A",612971,"{Retinal disease in Usher syndrome type IIA, modifier of}",276901,"Extremely limited / controversial evidence",{"$nulls":9},"N/A","NR"]
["PNPT1",610316,"Deafness, autosomal recessive 70",614934,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,0,{"$f":"SUM(J46:N46)","v":10},"NR"]
["PTGS1",176805,"Bleeding Disorder, platelet-type, 12",605735,"Extremely limited / controversial evidence",{"$nulls":9},"N/A","NR"]
["RET",164761,"Central hypoventilation syndrome, congenital",209880,"AD","Hypoventilation","Neonatal","Referral to specialists for surveillance and early management","Neonatal",3,0,3,2,0,{"$f":"SUM(J48:N48)","v":8},"NR"]
["RIPOR2",611410,"?Deafness, autosomal recessive 104",616515,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Birth",1,3,3,3,0,{"$f":"SUM(J49:N49)","v":10},"NR"]
["ROR1",602336,"?Deafness, autosomal recessive 108",617654,"AR","Communication deficits","Neonatal","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,0,10,"NR"]
["RSPO1",609595,"Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal",610644,"AR","Squamous cell carcinoma","Adulthood","Referral to specialists for surveillance and supportive care","Adolescent",1,3,0,0,0,{"$f":"SUM(J51:N51)","v":4},"NR"]
["SDHA",600857,"Cardiomyopathy, dilated, IGG",613642,"Extremely limited / controversial evidence",{"$nulls":9},"N/A","NR"]
["SELP",173610,"Gray platelet syndrome",139090,"Extremely limited / controversial evidence",{"$nulls":9},"N/A","NR"]
["SIX5",600963,"Branchiootorenal syndrome 2",610896,"AD","Syndromic manifestations","N/A","Referral to specialists for surveillance and preemptive management","N/A",1,0,3,3,0,{"$f":"SUM(J54:N54)","v":7},"NR",null,"C"]
["SLC26A5",604943,"Deafness, autosomal recessive 61",613865,"AR","Communication deficits","Birth","Referral to specialists for surveillance and preemptive management","Neonatal",1,3,3,3,0,{"$f":"SUM(J55:N55)","v":10},"NR"]
["TBXA2R",188070,"Bleeding Disorder, Platelet-type, 13, susceptibility to",614009,"Extremely limited / controversial evidence",{"$nulls":9},"N/A","NR"]
["TBXAS1",274180,"Bleeding Disorder, Platelet-type 14 / Thromboxane Synthase Deficiency",614158,"Extremely limited / controversial evidence",{"$nulls":9},"N/A","NR"]
["TECTB",602653,"Hearing loss","N/A","N/A","Communication deficits","N/A","Referral to specialists for surveillance and preemptive management","N/A",0,0,0,0,0,0,"NR"]
["TJP2",607709,"Deafness, autosomal dominant 51",613558,"AD","Communication deficits","Adulthood","Referral to specialists for surveillance and preemptive management","Adulthood",0,0,3,3,0,{"$f":"SUM(J59:N59)","v":6},"NR"]
["TMEM132E",616178,"Deafness, autosomal recessive 99","N/A","AR","Communication deficits","Infant","Referral to specialists for surveillance and preemptive management","Infant",1,3,3,3,0,10,"NR"]
["TNC",187380,"Deafness, autosomal dominant 56",615629,"AD","Communication deficits","Adolescent","Referral to specialists for surveillance and preemptive management","Childhood",0,3,3,3,0,9,"NR"]
["TREML1",609714,"Gray Platelet Syndrome",139090,"Extremely limited / controversial evidence",{"$nulls":9},"N/A","NR"]
["TRH",613879,"Thyrotropin-releasing hormone deficiency",275120,"AR","Central hypothyroidism","Infant","Referral to specialists for surveillance and preemptive management","N/A",1,0,0,0,0,{"$f":"SUM(J63:N63)","v":1},"NR",null,"C"]
["Trisomy 21","N/A","Down Syndrome",190685,"Multiple and/or complex pattern","Syndromic manifestations","Birth","Referral to specialists for surveillance and supportive care","Neonatal",0,0,0,0,0,{"$f":"SUM(J64:N64)","v":0},"NR"]
["USH1E",null,"Usher Syndrome, type 1E",602097,"Extremely limited / controversial evidence",{"$nulls":9},"N/A","NR"]
["USH1H",null,"Usher Syndrome, type 1H",612632,"Extremely limited / controversial evidence",{"$nulls":9},"N/A","NR"]
["USH1K",null,"Usher Syndrome, type IK",614990,"Extremely limited / controversial evidence",{"$nulls":9},"N/A","NR"]
["WS2B",600193,"Waardenburg Syndrome, type 2B",600193,"Extremely limited / controversial evidence",{"$nulls":9},"N/A","NR"]
["WS2C",606662,"Waardenburg Syndrome, type 2C",606662,"Extremely limited / controversial evidence",{"$nulls":9},"N/A","NR"]