SCN5A-related cardiac rhythm disorder
Findings
No curated finding names SCN5A-related cardiac rhythm disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A heterogeneous collection of cardiac rhythm disorders caused by genetic variations in the SCN5A gene with autosomal dominant inheritance. Affected individuals are commonly reported to have unremarkable cardiac morphology and at least one cardiac rhythm phenotype that includes, but is not limited to, atrial fibrillation, sick sinus syndrome, progressive cardiac conduction disease, ventricular fibrillation, long QT syndrome, and Brugada syndrome.
Definition from the Mondo Disease Ontology (MONDO:1010181), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SCN5AHGNC:10593
- Definitive · ClinGen · Autosomal dominant · 2025
Where it sits
- A kind of