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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