Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Mendeliome v0.12080 NR2E3 Zornitza Stark Marked gene: NR2E3 as ready
Mendeliome v0.12080 NR2E3 Zornitza Stark Gene: nr2e3 has been classified as Green List (High Evidence).
Mendeliome v0.12080 NR2E3 Zornitza Stark Phenotypes for gene: NR2E3 were changed from to Retinitis pigmentosa 37 - MIM#611131; Enhanced S-cone syndrome - MIM#268100; Goldmann-Favre syndrome - MONDO#0100289; retinal dystrophy
Mendeliome v0.12079 NR2E3 Zornitza Stark Publications for gene: NR2E3 were set to
Mendeliome v0.12078 NR2E3 Zornitza Stark Mode of inheritance for gene: NR2E3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12043 NR2E3 Krithika Murali reviewed gene: NR2E3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301590, 30324420, 19718767, 33138239; Phenotypes: Retinitis pigmentosa 37 - MIM#611131, Enhanced S-cone syndrome - MIM#268100, Goldmann-Favre syndrome - MONDO#0100289, retinal dystrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.0 NR2E3 Zornitza Stark gene: NR2E3 was added
gene: NR2E3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NR2E3 was set to Unknown