Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000680066 | SCV000807506 | uncertain significance | Hyperphosphatasia with intellectual disability syndrome 1 | 2017-09-01 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory homozygous in a 6-month-old female with clinically suspected Mabry syndrome: high alkaline phosphatase, dysmorphisms, craniosynostosis, hypoplastic nails, small PFO, hypoplastic genitalia, epilepsy. The PIGB gene is located downstream of the PIGV gene in the glycosylphosphatidylinositol anchor biosynthesis pathway. Mutations in the PIGV gene_x000D_ are responsible for Mabry syndrome. |
OMIM | RCV000850266 | SCV000992438 | pathogenic | Developmental and epileptic encephalopathy, 80 | 2020-10-20 | no assertion criteria provided | literature only |