Epidermolysis bullosa

Gene: JUP

Green List (high evidence)

JUP (junction plakoglobin)
EnsemblGeneIds (GRCh38): ENSG00000173801
EnsemblGeneIds (GRCh37): ENSG00000173801
OMIM: 173325, Gene2Phenotype
JUP is in 6 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

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
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)
24 Apr 2017, 12:33 p.m.
Comment on mode of inheritance: added MOI from OMIM, literature and expert reviewer
24 Apr 2017, 12:22 p.m.
Comment on phenotypes: added phenotypes from OMIM and expert reviewer. Naxos disease includes phenotype skin fragility
24 Apr 2017, 12:20 p.m.

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, 601214
  • Severe generalised Epidermolysis bullosa simplex
OMIM
173325
Clinvar variants
Variants in JUP
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 Apr 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation.

24 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Apr 2017, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for JUP were set to 10902626;20130592;21668431;19067702

24 Apr 2017, Gel status: 2

Upload gene information

Louise Daugherty (Genomics England Curator)

JUP was added to Epidermolysis bullosapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

24 Apr 2017, Gel status: 0

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for JUP was changed to BIALLELIC, autosomal or pseudoautosomal

24 Apr 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for JUP were set to Naxos disease, 601214; Severe generalised Epidermolysis bullosa simplex

28 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

JUP was created by ellenmcdonagh

28 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

JUP was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing