Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Achromatopsia v0.9 RGS9BP Bryony Thompson Marked gene: RGS9BP as ready
Achromatopsia v0.9 RGS9BP Bryony Thompson Gene: rgs9bp has been classified as Green List (High Evidence).
Achromatopsia v0.9 RGS9BP Bryony Thompson Classified gene: RGS9BP as Green List (high evidence)
Achromatopsia v0.9 RGS9BP Bryony Thompson Gene: rgs9bp has been classified as Green List (High Evidence).
Achromatopsia v0.8 RGS9BP Bryony Thompson gene: RGS9BP was added
gene: RGS9BP was added to Achromatopsia. Sources: Expert list
Mode of inheritance for gene: RGS9BP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RGS9BP were set to 14702087; 19818506
Phenotypes for gene: RGS9BP were set to Bradyopsia MIM#608415
Review for gene: RGS9BP was set to GREEN
Added comment: At least 3 families reported with homozygous variants
Sources: Expert list