Epidermolysis bullosa and congenital skin fragility

Gene: JUP

Green List (high evidence)

JUP (junction plakoglobin)
EnsemblGeneIds (GRCh38): ENSG00000173801
EnsemblGeneIds (GRCh37): ENSG00000173801
OMIM: 173325, Gene2Phenotype
JUP is in 12 panels

3 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Severe generalised Epidermolysis bullosa simplex;Naxos disease, 601214
Created: 24 Mar 2021, 11:34 a.m. | Last Modified: 24 Mar 2021, 11:34 a.m.
Panel Version: 1.24

John McGrath (King's College London)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
severe generalised Epidermolysis bullosa simplex

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed status from amber to green based on expert reviewer suggestion and evidence in the literature
Created: 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 reviewer
Created: 24 Apr 2017, 12:22 p.m.
Comment on phenotypes: added phenotypes from OMIM and expert reviewer. Naxos disease includes phenotype skin fragility
Created: 24 Apr 2017, 12:20 p.m.

History Filter Activity

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: JUP were changed from Severe generalised Epidermolysis bullosa simplex; Naxos disease, 601214 to Severe generalised Epidermolysis bullosa simplex

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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