Epidermolysis bullosa and congenital skin fragility
Gene: JUPComment on phenotypes: Previous phenotypes:
Severe generalised Epidermolysis bullosa simplex;Naxos disease, 601214Created: 24 Mar 2021, 11:34 a.m. | Last Modified: 24 Mar 2021, 11:34 a.m.
Panel Version: 1.24
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
severe generalised Epidermolysis bullosa simplex
Comment on list classification: Changed status from amber to green based on expert reviewer suggestion and evidence in the literatureCreated: 24 Apr 2017, 12:34 p.m.
Comment on publications: Added publications to support gene is involved in the disorder(s) in 3 or more unrelated cases : Naxos disease (includes the phenotype skin fragility)Created: 24 Apr 2017, 12:33 p.m.
Comment on mode of inheritance: added MOI from OMIM, literature and expert reviewerCreated: 24 Apr 2017, 12:22 p.m.
Comment on phenotypes: added phenotypes from OMIM and expert reviewer. Naxos disease includes phenotype skin fragilityCreated: 24 Apr 2017, 12:20 p.m.
Phenotypes for gene: JUP were changed from Severe generalised Epidermolysis bullosa simplex to Naxos disease, OMIM:601214; Generalised skin fragility, epidermolysis bullosa
Phenotypes for gene: JUP were changed from Severe generalised Epidermolysis bullosa simplex; Naxos disease, 601214 to Severe generalised Epidermolysis bullosa simplex
gene: JUP was added gene: JUP was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: JUP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JUP were set to 20130592; 19067702; 10902626; 21668431 Phenotypes for gene: JUP were set to Severe generalised Epidermolysis bullosa simplex; Naxos disease, 601214