Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Achromatopsia v0.4 GNAT2 Bryony Thompson Marked gene: GNAT2 as ready
Achromatopsia v0.4 GNAT2 Bryony Thompson Gene: gnat2 has been classified as Green List (High Evidence).
Achromatopsia v0.4 GNAT2 Bryony Thompson Classified gene: GNAT2 as Green List (high evidence)
Achromatopsia v0.4 GNAT2 Bryony Thompson Gene: gnat2 has been classified as Green List (High Evidence).
Achromatopsia v0.3 GNAT2 Bryony Thompson gene: GNAT2 was added
gene: GNAT2 was added to Achromatopsia. Sources: Expert list
Mode of inheritance for gene: GNAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNAT2 were set to 32203983; 17251445
Phenotypes for gene: GNAT2 were set to Achromatopsia 4 MIM#613856
Review for gene: GNAT2 was set to GREEN
Added comment: Nine cases from four unrelated consanguineous families and a supporting zebrafish model.
Sources: Expert list