Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in Arrhythmogenic cardiomyopathyComponent of the following Super Panels:
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) |
R-numbers: R135 Signed-off version 1.4 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Arrhythmogenic right ventricular dysplasia 12 |
Component of the following Super Panels:
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) |
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 erythrokeratodermaR-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 keratodermasR-numbers: R166 Signed-off version 1.3 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Naxos disease, Desmosomal disorders |