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
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R133
Signed-off version 3.11
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Naxos disease, OMIM:601214, Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R132
Signed-off version 2.25
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Naxos disease, OMIM:601214, Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
R-numbers: R164
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Naxos disease, OMIM:601214, Generalised skin fragility, epidermolysis bullosa
R-numbers: R165
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Naxos disease, OMIM:601214
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 4.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Naxos disease, OMIM:601214, Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
R-numbers: R166
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Naxos disease, OMIM:601214, Palmoplantar keratoderma, keratoderma with woolly hair