short QT syndrome type 1
MONDO:0012312Mondo
Findings
No curated finding names short QT syndrome type 1 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 KCNH2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012312), 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.
- Cardiac arrestHPOHP:0001695
- PalpitationsHPOHP:0001962
- Paroxysmal atrial fibrillationHPOHP:0004757
- Shortened QT intervalHPOHP:0012232
- Sudden cardiac deathHPOHP:0001645
- SyncopeHPOHP:0001279
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.
- KCNH2HGNC:6251
- Definitive · G2P · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: short QT syndrome type 1
- Also called
- KCNH2 short QT syndromeshort QT syndrome caused by mutation in KCNH2SQTS