Brugada syndrome 2
MONDO:0012728Mondo
Findings
No curated finding names Brugada syndrome 2 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 GPD1L gene.
Definition from the Mondo Disease Ontology (MONDO:0012728), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
6 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.
- Prolonged PR intervalHPOHP:0012248
- 7 of 12 reported patients
- Sudden cardiac deathHPOHP:0001645
- Occasional (5% to 29% of cases)
- Complete right bundle branch blockHPOHP:0011712
- First degree atrioventricular blockHPOHP:0011705
- SyncopeHPOHP:0001279
- 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.
- GPD1LHGNC:28956
- Limited · Genomics England PanelApp · Unknown · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
4 names
Resolves to: Brugada syndrome 2
- Also called
- BRGDA2Brugada syndrome caused by mutation in GPD1LBrugada syndrome type 2GPD1L Brugada syndrome