| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.233 | WDR26 | Bryony Thompson Marked gene: WDR26 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.233 | WDR26 | Bryony Thompson Gene: wdr26 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.233 | WDR26 | Bryony Thompson Classified gene: WDR26 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.233 | WDR26 | Bryony Thompson Gene: wdr26 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.232 | WDR26 |
Bryony Thompson gene: WDR26 was added gene: WDR26 was added to Ataxia. Sources: Literature Mode of inheritance for gene: WDR26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WDR26 were set to 33506510 Phenotypes for gene: WDR26 were set to Skraban-Deardorff syndrome, MONDO:0054636 Review for gene: WDR26 was set to AMBER Added comment: PMID 33506510 reports six individuals from six families with de novo heterozygous loss-of-function or missense variants in WDR26 presenting with Skraban-Deardorff syndrome. Ataxia was present in three of the individuals. Sources: Literature |
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