Arrhythmogenic Cardiomyopathy
Gene: JUP

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

3 reviews

Ivan Macciocca (Victorian Clinical Genetics Services)

reviewed by ClinGen Expert panel (published in 2021 PMID: 33831308) - DEFINITIVE
Created: 27 May 2021, 5:21 a.m. | Last Modified: 27 May 2021, 5:21 a.m.

Panel Version: 0.47

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ARVC; Naxos disease

Publications

PMID: 33831308

Created: 27 May 2021, 5:21 a.m.
Last Modified: 27 May 2021, 5:21 a.m.
Panel version: 0.47

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DEFINITIVE by ClinGen.
Created: 3 Aug 2020, 7:05 a.m. | Last Modified: 3 Aug 2020, 7:05 a.m.

Panel Version: 0.29

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Arrhythmogenic right ventricular dysplasia 12, MIM# 611528

Created: 3 Aug 2020, 7:05 a.m.
Last Modified: 3 Aug 2020, 7:05 a.m.
Panel version: 0.29

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

Recessive condition has cutaneous phenotype in addition to ARVD/C (PMID: 16722579)
Created: 22 Jun 2020, 2:05 a.m. | Last Modified: 22 Jun 2020, 2:05 a.m.

Panel Version: 0.3

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

Created: 22 Jun 2020, 2:05 a.m.
Last Modified: 22 Jun 2020, 2:05 a.m.
Panel version: 0.3

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Arrhythmogenic right ventricular dysplasia 12 MIM# 611528
Naxos disease MIM# 601214

OMIM

173325

Clinvar variants

Variants in JUP

Penetrance

None

Publications

Panels with this gene