catecholaminergic polymorphic ventricular tachycardia 3
Findings
No curated finding names catecholaminergic polymorphic ventricular tachycardia 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TECRL gene.
Definition from the Mondo Disease Ontology (MONDO:0013529), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
11 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.
- Bidirectional ventricular tachycardiaHPOHP:0034040
- 1 of 1 reported patient
- Cardiac arrestHPOHP:0001695
- 3 of 3 reported patients
- PalpitationsHPOHP:0001962
- 1 of 1 reported patient
- Paroxysmal ventricular tachycardiaHPOHP:0004751
- 1 of 1 reported patient
- Polymorphic ventricular tachycardiaHPOHP:0031677
- 1 of 1 reported patient
- Premature ventricular contractionHPOHP:0006682
- 1 of 1 reported patient
- Prolonged QT intervalHPO
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.
- TECRLHGNC:27365
- Definitive · G2P · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Genomics England PanelApp · Autosomal recessive · 2020
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
3 names
Resolves to: catecholaminergic polymorphic ventricular tachycardia 3
- Also called
- catecholaminergic polymorphic ventricular tachycardia caused by mutation in TECRLcatecholaminergic polymorphic ventricular tachycardia type 3TECRL catecholaminergic polymorphic ventricular tachycardia