Hair disorders
Gene: JUP

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

1 review

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 Mendeliome panel version 0.11160

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
Literature
Victorian Clinical Genetics Services

Phenotypes

Naxos disease, 601214

OMIM

173325

Clinvar variants

Variants in JUP

Penetrance

None

Publications

31332722

Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: JUP was added gene: JUP was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: JUP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JUP were set to 31332722 Phenotypes for gene: JUP were set to Naxos disease, 601214

Hair disorders Gene: JUP