| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Polymicrogyria and Schizencephaly v0.179 | DEPDC5 | Zornitza Stark Marked gene: DEPDC5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.179 | DEPDC5 | Zornitza Stark Gene: depdc5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.179 | DEPDC5 | Zornitza Stark Classified gene: DEPDC5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.179 | DEPDC5 | Zornitza Stark Gene: depdc5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.178 | DEPDC5 |
Dean Phelan gene: DEPDC5 was added gene: DEPDC5 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: DEPDC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DEPDC5 were set to PMID: 36067010; 32848577 Phenotypes for gene: DEPDC5 were set to Neurodevelopmental disorder, DEPDC5-related, MONDO:0700092 Mode of pathogenicity for gene: DEPDC5 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: DEPDC5 was set to GREEN Added comment: PMID: 36067010 - Homozygous missense variants were identified in five families (3x Irish Traveller families with same variant; and 1x Tunisian and 1x Lebanese families with the same variant; ie. 2 different variants only) in 9 children with consistent phenotypic features including extensive bilateral polymicrogyria, congenital macrocephaly, early onset refractory epilepsy and severe developmental delay. Skin biopsy immunohistochemistry suggested hyperactivation of the mTOR pathway. Disease mechanism is LOF as DEPDC5 is a repressor/inhibitor within the mTOR pathway. PMID: 32848577 - A different homozygous missense variant was identified in a child with focal cortical dysplasia and childhood onset epilepsy. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||