Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Mendeliome v0.12119 CACNA2D4 Ain Roesley Phenotypes for gene: CACNA2D4 were changed from Retinal cone dystrophy 4 MIM#610478 to Retinal cone dystrophy 4 MIM#610478
Mendeliome v0.12118 CACNA2D4 Ain Roesley Phenotypes for gene: CACNA2D4 were changed from to Retinal cone dystrophy 4 MIM#610478
Mendeliome v0.12118 CACNA2D4 Ain Roesley Marked gene: CACNA2D4 as ready
Mendeliome v0.12118 CACNA2D4 Ain Roesley Gene: cacna2d4 has been classified as Green List (High Evidence).
Mendeliome v0.12118 CACNA2D4 Ain Roesley Publications for gene: CACNA2D4 were set to
Mendeliome v0.12118 CACNA2D4 Ain Roesley Mode of inheritance for gene: CACNA2D4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12117 CACNA2D4 Ain Roesley reviewed gene: CACNA2D4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17033974, 26560832, 26560832, 33927996, 34996991; Phenotypes: Retinal cone dystrophy 4 MIM#610478; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.0 CACNA2D4 Zornitza Stark gene: CACNA2D4 was added
gene: CACNA2D4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CACNA2D4 was set to Unknown