Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Adult onset dystonia, chorea or related movement disorder v0.50 AIFM1 Louise Daugherty reviewed gene: AIFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 AIFM1 Emily Jones reviewed gene: AIFM1: Rating: RED; Mode of pathogenicity: ; Publications: 20362274; Phenotypes: Combined oxidative phosphorylation deficiency 6 300816; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset dystonia, chorea or related movement disorder v0.48 AIFM1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 6 300816 for gene: AIFM1
Adult onset dystonia, chorea or related movement disorder v0.47 AIFM1 Louise Daugherty Source NHS GMS was added to AIFM1.
Adult onset dystonia, chorea or related movement disorder v0.46 AIFM1 Louise Daugherty Source South West GLH was added to AIFM1.
Adult onset dystonia, chorea or related movement disorder v0.2 AIFM1 Ellen McDonagh gene: AIFM1 was added
gene: AIFM1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AIFM1 were set to 20362274
Phenotypes for gene: AIFM1 were set to Combined oxidative phosphorylation deficiency 6 300816