Genomics England
GMS Panels
Panels
Genes and Entities

SCN5A

sodium voltage-gated channel alpha subunit 5
OMIM: 600163
PanelMode of inheritanceDetails
5 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 3.10
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 2.25
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiomyopathy, dilated, 1E
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 3.8
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 4.3
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 2.8
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Heart block, progressive, OMIM:113900, Heart block, progressive, type IA, OMIM:113900