long QT syndrome 3
Findings
No curated finding names long QT syndrome 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.
Definition from the Mondo Disease Ontology (MONDO:0011377), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset · Juvenile onset · Childhood onset · Second trimester onset
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.
- Hydrops fetalisHPOHP:0001789
- 1 of 1 reported patient
- Nonimmune hydrops fetalisHPOHP:0001790
- 1 of 1 reported patient
- Prolonged QTc intervalHPOHP:0005184
- 4 of 4 reported patients
- Ventricular flutterHPOHP:0011841
- 1 of 1 reported patient
- Ventricular tachycardiaHPOHP:0004756
- 1 of 1 reported patient
- Sudden cardiac deathHPOHP:0001645
- 2 of 5 reported patients
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 · Ambry Genetics · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
4 names
Resolves to: long QT syndrome 3
- Also called
- long QT syndrome caused by mutation in SCN5Along QT syndrome type 3LQT3SCN5A long QT syndrome