Activity

Filter

Cancel
Date Panel Item Activity
4 actions
Childhood onset dystonia, chorea or related movement disorder v1.49 TIMM8A Arina Puzriakova reviewed gene: TIMM8A: Rating: ; Mode of pathogenicity: None; Publications: 32820032; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Childhood onset dystonia, chorea or related movement disorder v0.257 TIMM8A Louise Daugherty commented on gene: TIMM8A
Childhood onset dystonia, chorea or related movement disorder v0.1 TIMM8A Ellen McDonagh Source South West GLH was added to TIMM8A.
Mode of inheritance for gene TIMM8A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TIMM8A
Childhood onset dystonia, chorea or related movement disorder v0.0 TIMM8A Ellen McDonagh gene: TIMM8A was added
gene: TIMM8A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: TIMM8A was set to