JUP

junction plakoglobin
OMIM: 173325
PanelMode of inheritanceDetails
6 panels
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
R-numbers: R133
Signed-off version 3.1
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 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Arrhythmogenic right ventricular dysplasia 12
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
R-numbers: R132
Signed-off version 2.1
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 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Naxos disease, OMIM:601214
R-numbers: R166
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Naxos disease, Desmosomal disorders