Genomics England
GMS Panels
Panels
Genes and Entities

JUP

junction plakoglobin
OMIM: 173325
PanelMode of inheritanceDetails
6 panels
Green
in Arrhythmogenic right ventricular cardiomyopathy
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 3.12
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Naxos disease, OMIM:601214, Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
Green
in Dilated and arrhythmogenic cardiomyopathy
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 2.32
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Naxos disease, OMIM:601214, Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
Green
in Epidermolysis bullosa and congenital skin fragility
R-numbers: R164
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Naxos disease, OMIM:601214, Generalised skin fragility, epidermolysis bullosa
Green
in Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Naxos disease, OMIM:601214
Green
in Paediatric or syndromic cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 6.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Naxos disease, OMIM:601214, Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
Green
in Palmoplantar keratodermas
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