Brugada syndrome 5
MONDO:0013015Mondo
Findings
No curated finding names Brugada syndrome 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Brugada syndrome in which the cause of the disease is a mutation in the SCN1B gene.
Definition from the Mondo Disease Ontology (MONDO:0013015), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bundle branch blockHPOHP:0011710
- ST segment elevationHPOHP:0012251
- Ventricular fibrillationHPOHP:0001663
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.
- SCN1BHGNC:10586
- Moderate · Genomics England PanelApp · Autosomal dominant · 2020
- Limited · Genomics England PanelApp · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: Brugada syndrome 5
- Also called
- BRGDA5Brugada syndrome caused by mutation in SCN1BBrugada syndrome type 5SCN1B Brugada syndrome