Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Blepharophimosis v0.42 UBE3B Zornitza Stark Marked gene: UBE3B as ready
Blepharophimosis v0.42 UBE3B Zornitza Stark Gene: ube3b has been classified as Green List (High Evidence).
Blepharophimosis v0.42 UBE3B Zornitza Stark Phenotypes for gene: UBE3B were changed from to Kaufman oculocerebrofacial syndrome, MIM# 244450; MONDO:0009485
Blepharophimosis v0.41 UBE3B Zornitza Stark Publications for gene: UBE3B were set to
Blepharophimosis v0.40 UBE3B Zornitza Stark Mode of inheritance for gene: UBE3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Blepharophimosis v0.39 UBE3B Zornitza Stark reviewed gene: UBE3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 23200864, 23200864, 34012380, 32949109; Phenotypes: Kaufman oculocerebrofacial syndrome, MIM# 244450, MONDO:0009485; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Blepharophimosis v0.0 UBE3B Zornitza Stark gene: UBE3B was added
gene: UBE3B was added to Blepharophimosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UBE3B was set to Unknown