Activity

Filter

Cancel
Date Panel Item Activity
13 actions
Epidermolysis bullosa v2.0 JUP Gene migrated from ENSG00000173801 to ENSG00000173801 (gene set migration)
Epidermolysis bullosa v0.10 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.9 JUP Zornitza Stark Phenotypes for gene: JUP were changed from Naxos disease MIM#601214; Congenital epidermolysis bullosa to Naxos disease MIM#601214; Congenital epidermolysis bullosa
Epidermolysis bullosa v0.9 JUP Zornitza Stark Marked gene: JUP as ready
Epidermolysis bullosa v0.9 JUP Zornitza Stark Gene: jup has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.9 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.9 JUP Zornitza Stark Publications for gene: JUP were set to 21320868; 29173316
Epidermolysis bullosa v0.8 JUP Zornitza Stark Phenotypes for gene: JUP were changed from to Naxos disease MIM#601214; Congenital epidermolysis bullosa
Epidermolysis bullosa v0.8 JUP Zornitza Stark Publications for gene: JUP were set to
Epidermolysis bullosa v0.6 JUP Zornitza Stark Classified gene: JUP as Amber List (moderate evidence)
Epidermolysis bullosa v0.6 JUP Zornitza Stark Gene: jup has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.4 JUP Bryony Thompson reviewed gene: JUP: Rating: AMBER; Mode of pathogenicity: None; Publications: 21320868, 29173316; Phenotypes: Naxos disease MIM#601214, Congenital epidermolysis bullosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.0 JUP Zornitza Stark gene: JUP was added
gene: JUP was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: JUP was set to Unknown