Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Ataxia - adult onset v0.64 STUB1 Zornitza Stark Marked gene: STUB1 as ready
Ataxia - adult onset v0.64 STUB1 Zornitza Stark Gene: stub1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.64 STUB1 Zornitza Stark Phenotypes for gene: STUB1 were changed from Autosomal recessive spinocerebellar ataxia type 16, 615768; Spinocerebellar ataxia, autosomal recessive 16 to Spinocerebellar ataxia 48, MIM#618093
Ataxia - adult onset v0.63 STUB1 Zornitza Stark Publications for gene: STUB1 were set to
Ataxia - adult onset v0.62 STUB1 Zornitza Stark Mode of inheritance for gene: STUB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ataxia - adult onset v0.61 STUB1 Teresa Zhao reviewed gene: STUB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32337344, PMID: 30381368, PMID: 31126790; Phenotypes: Spinocerebellar ataxia 48, MIM#618093; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ataxia - adult onset v0.0 STUB1 Bryony Thompson gene: STUB1 was added
gene: STUB1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STUB1 were set to Autosomal recessive spinocerebellar ataxia type 16, 615768; Spinocerebellar ataxia, autosomal recessive 16