Brugada syndrome 1
MONDO:0011001Mondo
Findings
No curated finding names Brugada syndrome 1 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 SCN5A gene.
Definition from the Mondo Disease Ontology (MONDO:0011001), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
8 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.
- SyncopeHPOHP:0001279
- 27 of 49 reported patients
- Ventricular fibrillationHPOHP:0001663
- 26 of 49 reported patients
- Atrial fibrillationHPOHP:0005110
- 21 of 49 reported patients
- Cardiac arrestHPOHP:0001695
- 11 of 49 reported patients
- Supraventricular tachycardia with an accessory connection mediated pathwayHPOHP:0011688
- 5 of 49 reported patients
- Atrial flutterHPOHP:0004749
- 3 of 49 reported patients
- Complete right bundle branch blockHPO
Genes
9 genes
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 · Ambry Genetics · Autosomal dominant · 2018
- Definitive · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2024
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- GPD1LHGNC:28956
- Disputed Evidence · ClinGen · Autosomal dominant · 2017
- HCN4HGNC:16882
- Disputed Evidence · ClinGen · Autosomal dominant · 2017
- HGNC:1399HGNC:1399
- Disputed Evidence · ClinGen · Autosomal dominant · 2017
Where it sits
Other names
4 names
Resolves to: Brugada syndrome 1
- Also called
- BRGDA1Brugada syndrome caused by mutation in SCN5ABrugada syndrome type 1SCN5A Brugada syndrome