Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Ataxia - adult onset v0.105 VPS13D Zornitza Stark Phenotypes for gene: VPS13D were changed from Spinocerebellar ataxia, autosomal recessive 4, 607317; Autosomal recessive spinocerebellar ataxia 4, 608877 to Spinocerebellar ataxia, autosomal recessive 4, 607317
Ataxia - adult onset v0.19 VPS13D Zornitza Stark Marked gene: VPS13D as ready
Ataxia - adult onset v0.19 VPS13D Zornitza Stark Gene: vps13d has been classified as Green List (High Evidence).
Ataxia - adult onset v0.19 VPS13D Zornitza Stark reviewed gene: VPS13D: Rating: GREEN; Mode of pathogenicity: None; Publications: 29604224, 29518281; Phenotypes: Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - adult onset v0.0 VPS13D Bryony Thompson gene: VPS13D was added
gene: VPS13D was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: VPS13D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13D were set to Spinocerebellar ataxia, autosomal recessive 4, 607317; Autosomal recessive spinocerebellar ataxia 4, 608877