| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital Disorders of Glycosylation v0.218 | PIGH | Zornitza Stark Marked gene: PIGH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.218 | PIGH | Zornitza Stark Gene: pigh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.218 | PIGH | Zornitza Stark Classified gene: PIGH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.218 | PIGH | Zornitza Stark Gene: pigh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.217 | PIGH |
Zornitza Stark gene: PIGH was added gene: PIGH was added to Congenital Disorders of Glycosylation. Sources: Expert list Mode of inheritance for gene: PIGH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGH were set to 33156547; 29573052; 29603516 Phenotypes for gene: PIGH were set to Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010 Review for gene: PIGH was set to GREEN Added comment: Six unrelated families reported, common clinical features include developmental delay/intellectual disability and hypotonia. Variable clinical features include seizures, autism spectrum disorder, apraxia, severe language delay, dysarthria, feeding difficulties, facial dysmorphisms, microcephaly, strabismus, and musculoskeletal anomalies. Sources: Expert list |
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