Traits

Traits linked to CASQ2

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The Human Phenotype Ontology links 16 traits to CASQ2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	How often it is seen
Bidirectional ventricular tachycardia	Always
Fainting spell	Always
Polymorphic ventricular tachycardia	Always
Effort-induced polymorphic ventricular tachycardia	Very often (80–99%)
Atrial standstill	Often (30–79%)
Paroxysmal atrial fibrillation	Often (30–79%)
Reduced systolic function	Often (30–79%)
Stretched and thinned heart muscle	Often (30–79%)
Sudden cardiac death	Often (30–79%)
Interruption of electrical communication between upper and lower chambers of heart	Sometimes (5–29%)
Sick sinus syndrome	Sometimes (5–29%)
Ventricular couplet	Sometimes (5–29%)
Slow heartbeats	Not recorded
Ventricular tachycardia	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Epilepsy	Not recorded

Constitutional symptom

Trait	How often it is seen
Sudden death	Not recorded

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to CASQ2 and how often each is seen. Find out more at hpo.jax.org.

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