long QT syndrome 6
MONDO:0013370Mondo
Findings
No curated finding names long QT syndrome 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013370), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
4 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 QTc intervalHPOHP:0005184
- 3 of 3 reported patients
- Cardiac arrestHPOHP:0001695
- 2 of 3 reported patients
- Ventricular fibrillationHPOHP:0001663
- 2 of 3 reported patients
- Torsade de pointesHPOHP:0001664
- 1 of 3 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.
- KCNE2HGNC:6242
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
4 names
Resolves to: long QT syndrome 6
- Also called
- KCNE2 long QT syndromelong QT syndrome caused by mutation in KCNE2long QT syndrome type 6LQT6