Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Adult onset dystonia, chorea or related movement disorder v1.98 WDR45 Arina Puzriakova Phenotypes for gene: WDR45 were changed from Neurodegeneration with brain iron accumulation 5 300894; Dystonia; beta-propeller protein-associated neurodegeneration to Neurodegeneration with brain iron accumulation 5, OMIM:300894
Adult onset dystonia, chorea or related movement disorder v0.54 WDR45 Louise Daugherty reviewed gene: WDR45: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 WDR45 James Polke reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.52 WDR45 Louise Daugherty Source NHS GMS was added to WDR45.
Adult onset dystonia, chorea or related movement disorder v0.51 WDR45 Louise Daugherty Source London North GLH was added to WDR45.
Adult onset dystonia, chorea or related movement disorder v0.2 WDR45 Ellen McDonagh gene: WDR45 was added
gene: WDR45 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: WDR45 were set to 23435086; 22892189; 23176820
Phenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5 300894; Dystonia; beta-propeller protein-associated neurodegeneration