Table 5.
Atypical phenotypes
| ID | Variant | Zygosity | Observed phenotype | Reported phenotype |
|---|---|---|---|---|
| 16N-0062 | ITPR1:NM_002222:exon50:c.6862C>T:p.R2288X | Hom | GDD and brain atrophy | Spinocerebellar ataxia 15 |
| 16N-0149 | KMT2A:NM_001197104:exon4:c.3248G>A:p.R1083Q | Het | CHARGE-like | Kabuki syndrome |
| 16N-0235 | WNT10B:NM_003394:exon4:c.338-1G>C | Hom | Split foot malformation and hand polydactyly | Split-hand/foot malformation 6 |
| 16 N-0395 | SMPD1:NM_000543:exon4:c.1267C>T:p.H423Y | Hom | Severe neonatal cholestasis | Niemann-pick disease |
| 16N-0439 | RAD21:NM_006265:exon2:c.68G>A:p.W23X | Het | Overgrowth, macrocephaly, ID, ataxia, renal malformation, renal tubulopathy, ptosis, anorectal malformation, AML | Cornelia de lange syndrome |
| 16N-0481 | HSD3B7:NM_025193:exon6:c.694+2T>- | Hom | High GGT cholestasis in infancy that later resolved with normal GGT and serum bilirubin but with elevated liver enzymes suggestive of chronic compensated liver disease, liver biopsy suggested PFIC type 3 | Bile acid synthesis defect, congenital, 1 |
| 16 N-0617 | PRKCSH:NM_001289103:exon17:c.1462-1G>C | Het | Idiopathic chronic liver disease, no cysts | Polycystic liver disease |
| 16N-0653 | ITGB2:NM_000211:exon13:c.1756C>T:p.R586 W | Hom | Inflammatory bowel disease | Leukocyte adhesion deficiency |
| 16N-0703 | PKD2:NM_000297:exon1:c.567G>A:p.W189X | Het | Nephrolithiasis in the 2nd yr of life | Autosomal dominant polycystic kidney disease |
| 16-2567 | COG6: NM_020751.2:c.1167-24A>G | Hom | Failure to thrive, global developmental delay, hiatus hernia, lung hypoplasia, congenital diaphragmatic hernia, low intestinal motility disorder, partial intestinal obstruction | ID and anhidrosis |
| 16W-0091 | VAMP1:NM_014231:exon2:c.129+1G>A | Hom | Congenital hypotonia, rigid spine, myopathic facies, normal CK | Spastic ataxia 1, autosomal dominant |
| 16W-0235 | RFT1: NM_052859:exon7:c.775+1G>C | Hom | Congenital microcephaly, GDD, epilepsy, hematemesis | marked developmental delay, hypotonia, seizures, hepatomegaly, and coagulopathy |
| 16W-0253 | FAM134B:NM_019000:exon6:c.503C>G:p.S168X | Hom | Behavioral changes, muscle weakness, frequent falls, brisk reflexes, suspected HSP | Neuropathy, hereditary sensory and autonomic, type IIB |
| 16 W-0291 | PHKA1:NM_001122670:exon12:c.1174C>T:p.R392X | Hom | Dystonic posturing of the upper limbs, spasticity of the lower limbs, FTT, learning disability | Muscle glycogenosis |
| 16W-0321 | PIEZO2:NM_022068:exon3:c.273_279del:p.A91 fs | Hom | Severe lower limb weakness, severe progressive scoliosis, suspected SMA, no arthrogryposis | Arthrogryposis |
| 16W-0328 | TGIF1:NM_170695:exon1:c.90G>A:p.W30X | Het | Hemimegalencephaly, developmental delay, ADHD, Abnormal pigmentation, all over the body, normal karyotype | Holoprosencephaly 4 |
| 16N-0505 | DCC:NM_005215:exon9:c.1423C>T:p.R475X | Het | Adult onset ataxia slow progressive. No cognitive dysfunction. NCS: pred. sensory neuropathy | Mirror movements 1 |