Genomics England

JUP

junction plakoglobin

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Arrhythmogenic cardiomyopathy 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)
Green in Cardiomyopathies - including childhood onset R-numbers: R135 Signed-off version 1.4	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 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)
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 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
Green in Palmoplantar keratodermas R-numbers: R166 Signed-off version 1.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Naxos disease, Desmosomal disorders