| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.1247 | WDR26 | Zornitza Stark Marked gene: WDR26 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1247 | WDR26 | Zornitza Stark Gene: wdr26 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1247 | WDR26 | Zornitza Stark Classified gene: WDR26 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1247 | WDR26 | Zornitza Stark Gene: wdr26 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1245 | WDR26 |
Danielle Ariti gene: WDR26 was added gene: WDR26 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: WDR26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WDR26 were set to 28686853; 33675273 Phenotypes for gene: WDR26 were set to Skraban-Deardorff syndrome MIM# 617616 Review for gene: WDR26 was set to GREEN Added comment: 20 individuals have been reported (only 17 with a clinical description available). All mono-allelic variants reported were de novo; most variants were LoF (frameshift, nonsense, splice site, deletion) but some were missense. Skraban-Deardorff syndrome is a neurodevelopmental disorder characterised by a broad range of clinical signs, including ID/DD, febrile and/or non-febrile seizures, abnormal facial features, feeding difficulties, and minor skeletal anomalies (Spastic gait). PMID: 28686853- Reported 15 individuals with pathogenic de novo WDR26 variants. 15/15 patients presented with both ID and seizures. Sources: Expert list |
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