Genomics England

ryanodine receptor 2

Panel	Mode of inheritance	Details
Filter panels3 panels
Green in Catecholaminergic polymorphic VT Component of the following Super Panels: - Cardiac arrhythmias - Sudden unexplained death or survivors of a cardiac event - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R129 Signed-off version 4.7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 1, OMIM:604772
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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Arrhythmogenic right ventricular dysplasia 2, Arrhythmogenic right ventricular dysplasia 2 (600996), Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)
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 5.13	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Arrhythmogenic right ventricular dysplasia 2, 600996, Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy