Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Epidermolysis bullosa v0.44 COL17A1 Zornitza Stark Marked gene: COL17A1 as ready
Epidermolysis bullosa v0.44 COL17A1 Zornitza Stark Gene: col17a1 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.44 COL17A1 Zornitza Stark Phenotypes for gene: COL17A1 were changed from to Epidermolysis bullosa, junctional, localisata variant, MIM# 226650; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Epithelial recurrent erosion dystrophy, MIM# 122400
Epidermolysis bullosa v0.43 COL17A1 Zornitza Stark Mode of inheritance for gene: COL17A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Epidermolysis bullosa v0.42 COL17A1 Zornitza Stark reviewed gene: COL17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, localisata variant, MIM# 226650, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650, Epithelial recurrent erosion dystrophy, MIM# 122400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Epidermolysis bullosa v0.0 COL17A1 Zornitza Stark gene: COL17A1 was added
gene: COL17A1 was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL17A1 was set to Unknown