Genomics England
GMS Panels
Panels
Genes and Entities

JUP

junction plakoglobin
OMIM: 173325
PanelMode of inheritanceDetails
6 panels
Green
in Arrhythmogenic cardiomyopathy
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)
Green
in Cardiomyopathies - including childhood onset
R-numbers: R135
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Arrhythmogenic right ventricular dysplasia 12
Green
in Dilated cardiomyopathy - adult and teen
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)
Green
in Epidermolysis bullosa and congenital skin fragility
R-numbers: R164
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe generalised Epidermolysis bullosa simplex, Naxos disease, 601214
Green
in Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Naxos disease, OMIM:601214
Green
in Palmoplantar keratodermas
R-numbers: R166
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Naxos disease, Desmosomal disorders