SCN5A

sodium voltage-gated channel alpha subunit 5
OMIM: 600163
PanelMode of inheritanceDetails
5 panels
Component of the following Super Panels:
  • - Cardiac arrhythmias
  • - Sudden unexplained death or survivors of a cardiac event
R-numbers: R128
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Brugada syndrome 1, 601144, Brugada syndrome 1, MONDO:0011001
R-numbers: R135
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dilated cardiomyopathy, Long QT syndrome, Brugada syndrome, Cardiomyopathy, dilated, 1E, Arrhythmogenic right ventricular cardiomyopathy
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
R-numbers: R132
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiomyopathy, dilated, 1E
Component of the following Super Panels:
  • - Cardiac arrhythmias
  • - Sudden unexplained death or survivors of a cardiac event
R-numbers: R127
Signed-off version 3.1
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)
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
R-numbers: R328
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Heart block, progressive, OMIM:113900, Heart block, progressive, type IA, OMIM:113900