Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Cone-rod Dystrophy v0.24 C21orf2 Zornitza Stark Tag new gene name tag was added to gene: C21orf2.
Cone-rod Dystrophy v0.24 C21orf2 Zornitza Stark changed review comment from: 7 families also reported with isolated retinal dystrophy.; to: 7 families also reported with isolated retinal dystrophy.

New HGNC approved name is CFAP410.
Cone-rod Dystrophy v0.24 C21orf2 Zornitza Stark Marked gene: C21orf2 as ready
Cone-rod Dystrophy v0.24 C21orf2 Zornitza Stark Gene: c21orf2 has been classified as Green List (High Evidence).
Cone-rod Dystrophy v0.24 C21orf2 Zornitza Stark Publications for gene: C21orf2 were set to 30679166
Cone-rod Dystrophy v0.23 C21orf2 Zornitza Stark reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26294103, 23105016, 27548899; Phenotypes: Retinal dystrophy with macular staphyloma, MIM# 617547; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cone-rod Dystrophy v0.0 C21orf2 Bryony Thompson gene: C21orf2 was added
gene: C21orf2 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: C21orf2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C21orf2 were set to 30679166
Phenotypes for gene: C21orf2 were set to Retinal dystrophy with macular staphyloma, 617547