catecholaminergic polymorphic ventricular tachycardia 2
Findings
No curated finding names catecholaminergic polymorphic ventricular tachycardia 2 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 CASQ2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012762), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
2 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.
- Polymorphic ventricular tachycardiaHPOHP:0031677
- 2 of 2 reported patients
- SyncopeHPOHP:0001279
- 2 of 2 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.
- CASQ2HGNC:1513
- Definitive · G2P · Autosomal recessive · 2022
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Moderate · G2P · Autosomal dominant · 2024
Where it sits
Other names
4 names
Resolves to: catecholaminergic polymorphic ventricular tachycardia 2
- Also called
- CASQ2 catecholaminergic polymorphic ventricular tachycardiacatecholaminergic polymorphic ventricular tachycardia caused by mutation in CASQ2catecholaminergic polymorphic ventricular tachycardia type 2ventricular tachycardia, catecholaminergic polymorphic, type 2