SCN5A

sodium voltage-gated channel alpha subunit 5

17 disorders 7 causative 4 untyped 3 no genetic record 2 risk factor 1 unknown 3p22.2 gene with protein product

HGNC:10593 Monarch NCBI Gene 6331 ENSG00000183873 UniProt Q14524 OMIM 600163

Previous symbols: CMD1E. Aliases: Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
arrhythmogenic right ventricular cardiomyopathy	unknown germline
Atrial Standstill	causative germline	mechanism: SCN5A Sodium-Channel Loss of Function
Brugada syndrome	causative	mechanism: Fever-induced accentuation of sodium-channel loss of function; Reduced Depolarization Reserve subtype: SCN5A-related Brugada syndrome scoped to subtype: SCN5A-related Brugada syndrome
Dilated Cardiomyopathy 1E	causative	mechanism: SCN5A Missense Variant in the Cardiac Sodium Channel
Familial Atrial Fibrillation	risk factor germline	mechanism: Atrial Ion-Channel or Coupling Variant subtype: SCN5A-related scoped to subtype: SCN5A-related
Familial Long QT Syndrome	causative	mechanism: Persistent Late Sodium Current in LQT3 subtype: Type 3 computational model: O'Hara-Rudy (ORd) Human Ventricular Action Potential Model scoped to subtype: Type 3
Local Anesthetic Systemic Toxicity	risk factor
Paroxysmal Familial Ventricular Fibrillation	causative	mechanism: Cardiac Ion-Channel Variant subtype: Type 1 scoped to subtype: Type 1
Progressive Cardiac Conduction Disease	causative	mechanism: SCN5A Loss-of-Function Variant in the Cardiac Sodium Channel
Progressive Familial Heart Block	causative	mechanism: Inherited Conduction-System Ion-Channel Defect subtype: Type 1A scoped to subtype: Type 1A
Dilated Cardiomyopathy	untyped Pathogenic Variants	mechanism: Cardiomyocyte Excitability and Conduction Instability
Familial Sick Sinus Syndrome	untyped Causative
Irritable Bowel Syndrome	untyped Risk Factor
Torsade de Pointes Syndrome With Short Coupling Interval	untyped Susceptibility	mechanism: SCN5A sodium-channel susceptibility
Acute Tricyclic Antidepressant Poisoning	no genetic record	mechanism: Cardiac Fast Sodium Channel Blockade
Cocaine Intoxication	no genetic record	mechanism: Cardiac Fast Sodium Channel Blockade
Naxos disease	no genetic record	mechanism: Gap-junction and sodium-channel remodeling

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
congenital heart disease MONDO:0005453	AD	Disputed 2024-12-09	Congenital Heart Disease not named
dilated cardiomyopathy 1E MONDO:0011003	AD	Definitive 2026-03-04	Dilated Cardiomyopathy 1E causative
arrhythmogenic right ventricular cardiomyopathy MONDO:0016587	AD	Limited 2019-06-06	arrhythmogenic right ventricular cardiomyopathy unknown
SCN5A-related cardiac rhythm disorder MONDO:1010181	AD	Definitive 2025-10-08	no dismech entry

Mechanism modules · computed from kb/

cardiac_ion_channel_repolarization via Brugada syndrome, Familial Atrial Fibrillation, Familial Long QT Syndrome, Paroxysmal Familial Ventricular Fibrillation, Progressive Cardiac Conduction Disease, Torsade de Pointes Syndrome With Short Coupling Interval named in the module itself
cardiomyopathy_maladaptive_remodeling via Dilated Cardiomyopathy 1E
xenobiotic_cardiac_channel_perturbation via Acute Tricyclic Antidepressant Poisoning, Cocaine Intoxication

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.