Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Hereditary ataxia, adult onset v1.168 TUBA8 Louise Daugherty Mode of inheritance for gene: TUBA8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia, adult onset v1.9 TUBA8 Louise Daugherty Added phenotypes Complex cortical dysplasia with other brain malformations 8, 613180 for gene: TUBA8
Hereditary ataxia, adult onset v1.8 TUBA8 Louise Daugherty reviewed gene: TUBA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia, adult onset v1.7 TUBA8 Tracy Lester reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Complex cortical dysplasia with other brain malformations 8, 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia, adult onset v1.2 TUBA8 Louise Daugherty Source NHS GMS was added to TUBA8.
Hereditary ataxia, adult onset v1.1 TUBA8 Louise Daugherty gene: TUBA8 was added
gene: TUBA8 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TUBA8 was set to