Brugada syndrome 8
MONDO:0013148Mondo
Findings
No curated finding names Brugada syndrome 8 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 HCN4 gene.
Definition from the Mondo Disease Ontology (MONDO:0013148), read 2026-09-29. CC BY 4.0.
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.
- Complete right bundle branch blockHPOHP:0011712
- 1 of 1 reported patient
- ST segment elevationHPOHP:0012251
- 1 of 1 reported patient
- Ventricular tachycardiaHPOHP:0004756
- 1 of 1 reported patient
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.
- HCN4HGNC:16882
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Limited · Genomics England PanelApp · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
4 names
Resolves to: Brugada syndrome 8
- Also called
- BRGDA8Brugada syndrome caused by mutation in HCN4Brugada syndrome type 8HCN4 Brugada syndrome