Genomics England

SCN5A

sodium voltage-gated channel alpha subunit 5

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Brugada syndrome and cardiac sodium channel disease 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: R128 Signed-off version 3.11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Brugada syndrome 1, 601144, Brugada syndrome 1, MONDO:0011001
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, imprinted status unknown	Phenotypes Cardiomyopathy, dilated, 1E
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes {Sudden infant death syndrome, susceptibility to}, OMIM:272120, Long QT syndrome 3, OMIM:603830
Green in Long QT syndrome 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: R127 Signed-off version 3.9	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Ventricular fibrillation, familial, 1 (603829), Brugada syndrome 1 (601144), Heart block, nonprogressive (113900), Heart block, progressive, type IA (113900), {Sudden infant death syndrome, susceptibility to} (272120), Sick sinus syndrome 1 (608567), Long QT syndrome-3, Long QT syndrome-3 (603830), Cardiomyopathy, dilated, 1E (601154), Atrial fibrillation, familial, 10 (614022)
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, imprinted status unknown	Phenotypes Dilated cardiomyopathy, Long QT syndrome, Brugada syndrome, Cardiomyopathy, dilated, 1E, Arrhythmogenic right ventricular cardiomyopathy
Green in Progressive cardiac conduction disease 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: R328 Signed-off version 2.9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Heart block, progressive, OMIM:113900, Heart block, progressive, type IA, OMIM:113900