Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome: genes and variants
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome is linked to 1 analyzed protein (RYR2). 4 DNA variants are known to cause it; 30 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
RYR2: Ryanodine receptor 2
It releases calcium from the cardiac sarcoplasmic reticulum in response to trigger calcium entering during each action potential, thereby initiating contraction. Pathogenic variants can destabilize calcium release and are a major cause of catecholaminergic polymorphic ventricular tachycardia.
4 disease-causing and 30 uncertain variants in RYR2 are linked to Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome.
Known disease-causing variants in Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| RYR2 V3875L | 3875 | Cytoplasmic | Disease-causing (★★) |
| RYR2 G2284D | 2284 | 4 X approximate repeats | Disease-causing (★) |
| RYR2 L3935F | 3935 | Cytoplasmic | Disease-causing (★) |
| RYR2 P3612L | 3612 | Cytoplasmic | Disease-causing (★) |
Same protein, different disease
- Catecholaminergic polymorphic ventricular tachycardia is also caused by RYR2 variants; they fall mostly in different places as the Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome variants (58 disease-causing).
Diseases related to Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
- Catecholaminergic polymorphic ventricular tachycardia, also linked to RYR2
- Arrhythmogenic right ventricular dysplasia, also linked to RYR2
- Arrhythmogenic right ventricular cardiomyopathy, also linked to RYR2
Frequently asked questions
Which genes are linked to Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome?
In CATVariant, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome is linked to 1 analyzed protein: RYR2 (Ryanodine receptor 2).
How many genetic variants are linked to Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome?
41 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 30 are of uncertain significance or have conflicting reports.
Which uncertain variants in Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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