Epidermolysis bullosa
Gene: JUP

JUP (junction plakoglobin)
EnsemblGeneIds (GRCh38): ENSG00000173801
EnsemblGeneIds (GRCh37): ENSG00000173801
OMIM: 173325, Gene2Phenotype
JUP is in 11 panels

2 reviews

John McGrath (King's College London)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
severe generalised Epidermolysis bullosa simplex

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

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.

Created: 24 Apr 2017, 12:20 p.m.

Panel version: 0.60

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Eligibility statement prior genetic testing

Phenotypes

Naxos disease, OMIM:601214
Generalised skin fragility, epidermolysis bullosa

OMIM

173325

Clinvar variants

Variants in JUP

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

10 Oct 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: JUP were changed from Naxos disease, 601214; Severe generalised Epidermolysis bullosa simplex to Naxos disease, OMIM:601214; Generalised skin fragility, epidermolysis bullosa

25 Apr 2017, Gel status: 4