Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 |