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Article

Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships.

Journal of human genetics - 1 Jun 2020

Olubando Damilola, Hopton Claire, Eden James, Caswell Richard, Lowri Thomas N, Roberts Stephen A, Morris-Rosendahl Deborah, Venetucci Luigi, Newman William G

Abstract excerpt

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is predominantly caused by heterozygous missense variants in the cardiac ryanodine receptor, RYR2. However, many RYR2 missense variants are classified as variants of uncertain significance (VUS). We systematically re-evaluated all RYR2 variants in healthy individuals and those with CPVT or arrhythmia using the 2015 American College of Medical Genomics...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphic Catecholaminergic Ventricular Tachycardia

Share to Ryanodine Receptor Calcium Release Channel

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Source

Identifiers

PMID: 32152366
DOI: 10.1038/s10038-020-0738-6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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