SCN5A

sodium voltage-gated channel alpha subunit 5
OMIM: 600163
PanelMode of inheritanceDetails
5 panels
Component of the following Super Panels:
  • - Cardiac arrhythmias
  • - Sudden cardiac death
R-numbers: R128
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Brugada syndrome 1, 601144, MONDO_0015263
R-numbers: R135
Signed-off version 1.4
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 cardiac death
R-numbers: R132
Signed-off version 1.6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiomyopathy, dilated, 1E
Component of the following Super Panels:
  • - Cardiac arrhythmias
  • - Sudden cardiac death
R-numbers: R127
Signed-off version 2.20
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 cardiac death
R-numbers: R328
Signed-off version 1.5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
BUNDLE BRANCH BLOCK, HEART BLOCK, PROGRESSIVE, Lenegre-Lev disease, Heart block, progressive, type IA, CARDIAC CONDUCTION DEFECT, PROGRESSIVE, PROGRESSIVE FAMILIAL HEART BLOCK (113900)