short QT syndrome type 3
MONDO:0012314Mondo
Findings
No curated finding names short QT syndrome type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any short QT syndrome in which the cause of the disease is a mutation in the KCNJ2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012314), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile 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.
- Shortened QT intervalHPOHP:0012232
- 4 of 4 reported patients
- Paroxysmal atrial fibrillationHPOHP:0004757
- 2 of 4 reported patients
- Mildly reduced left ventricular ejection fractionHPOHP:0012663
- 1 of 4 reported patients
- PalpitationsHPOHP:0001962
- 1 of 4 reported patients
- PresyncopeHPOHP:0031972
- 1 of 4 reported patients
- Sudden cardiac deathHPOHP:0001645
- 0 of 4 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.
- KCNJ2HGNC:6263
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
2 names
Resolves to: short QT syndrome type 3
- Also called
- KCNJ2 short QT syndromeshort QT syndrome caused by mutation in KCNJ2