Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Dystonia - complex v0.254 APTX Zornitza Stark Marked gene: APTX as ready
Dystonia - complex v0.254 APTX Zornitza Stark Gene: aptx has been classified as Green List (High Evidence).
Dystonia - complex v0.254 APTX Zornitza Stark Publications for gene: APTX were set to
Dystonia - complex v0.240 APTX Sangavi Sivagnanasundram reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: None; Publications: 15876520; Phenotypes: ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MONDO:0008842; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia - complex v0.0 APTX Bryony Thompson gene: APTX was added
gene: APTX was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to Ataxia-oculomotor apraxia type 1; Dystonia