Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Ataxia - adult onset v0.53 PLD3 Bryony Thompson edited their review of gene: PLD3: Changed publications: 29053796, 30312375, 30312384
Ataxia - adult onset v0.24 PLD3 Bryony Thompson reviewed gene: PLD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 29053796; Phenotypes: Spinocerebellar ataxia 46 MIM#617770; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - adult onset v0.0 PLD3 Bryony Thompson gene: PLD3 was added
gene: PLD3 was added to Ataxia - adult onset_RMH. Sources: GeneReviews,Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: PLD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PLD3 were set to 30312375; 30312384; 29053796
Phenotypes for gene: PLD3 were set to ?Spinocerebellar ataxia 46