JUP

junction plakoglobin
OMIM: 173325
PanelMode of inheritanceDetails
6 panels
Component of the following Super Panels:
  • - Sudden cardiac death
R-numbers: R133
Signed-off version 2.9
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Arrhythmogenic right ventricular dysplasia 12, Arrhythmogenic right ventricular dysplasia 12 (611528), Naxos disease (601214)
R-numbers: R135
Signed-off version 1.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Arrhythmogenic right ventricular dysplasia 12
Component of the following Super Panels:
  • - Sudden cardiac death
R-numbers: R132
Signed-off version 1.6
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Naxos disease (601214), Arrhythmogenic right ventricular dysplasia 12, Arrhythmogenic right ventricular dysplasia 12 (611528)
R-numbers: R164
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe generalised Epidermolysis bullosa simplex, Naxos disease, 601214
R-numbers: R165
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES, PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR, palmoplantar keratoderma (PPK), keratoderma with woolly hair, Naxos disease, 601214, KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY
R-numbers: R166
Signed-off version 1.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Naxos disease, Desmosomal disorders