Epidermolysis bullosa
Gene: JUP

JUP (junction plakoglobin)
EnsemblGeneIds (GRCh38): ENSG00000173801
EnsemblGeneIds (GRCh37): ENSG00000173801
OMIM: 173325, Gene2Phenotype
JUP is in 14 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Association between mono-allelic variants and ARVC: DEFINITIVE by ClinGen.

Association between bi-allelic variants and Naxos: more than 5 unrelated families reported.
Created: 7 Mar 2022, 1:51 a.m. | Last Modified: 7 Mar 2022, 1:51 a.m.

Panel Version: 0.11160

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Arrhythmogenic right ventricular dysplasia 12, MIM# 611528; Naxos disease, MIM# 601214

Publications

Created: 7 Mar 2022, 1:51 a.m.
Last Modified: 7 Mar 2022, 1:51 a.m.
Panel version: Imported from Ectodermal Dysplasia panel version Imported from Mendeliome panel version 0.11160

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Only two cases of congenital epidermolysis bullosa with homozygous truncating variants (one due to maternal uniparental disomy) have been reported. Biallelic variants in JUP usually cause Naxos disease, which combines palmoplantar keratoderma (another dermatological feature) and other ectodermal features with cardiac disorders.
Created: 28 Jan 2020, 5:51 a.m. | Last Modified: 28 Jan 2020, 5:51 a.m.

Panel Version: 0.4

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Naxos disease MIM#601214; Congenital epidermolysis bullosa

Publications

Created: 28 Jan 2020, 5:51 a.m.
Last Modified: 28 Jan 2020, 5:51 a.m.
Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Amber
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services

Phenotypes

Naxos disease MIM#601214
Congenital epidermolysis bullosa

OMIM

173325

Clinvar variants

Variants in JUP

Penetrance

None

Publications

Panels with this gene