long QT syndrome 14
MONDO:0014548Mondo
Findings
No curated finding names long QT syndrome 14 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 CALM1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014548), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
7 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
- 4 of 4 reported patients
- Polymorphic ventricular tachycardiaHPOHP:0031677
- 3 of 3 reported patients
- Prolonged QTc intervalHPOHP:0005184
- 4 of 4 reported patients
- T-wave alternansHPOHP:0012266
- 3 of 3 reported patients
- Ventricular fibrillationHPOHP:0001663
- 4 of 4 reported patients
- 2:1 atrioventricular blockHPOHP:0034305
- 2 of 3 reported patients
- MyocarditisHPOHP:0012819
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.
- CALM1HGNC:1442
- Definitive · G2P · Autosomal dominant · 2024
- Strong · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
4 names
Resolves to: long QT syndrome 14
- Also called
- CALM1 long QT syndromelong QT syndrome caused by mutation in CALM1long QT syndrome type 14LQT14