Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE A 31-year-old female with syncope at rest and recurrent short-coupled premature ventricular contractions (PVCs) initiating PMVT was found to be heterozygous for a novel RyR2-H29D mutation. 25463374

2015

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation CLINVAR Germline and somatic mosaicism for a mutation of the ryanodine receptor type 2 gene: implication for genetic counselling and patient caring. 20851825

2011

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation CLINVAR Characterization of a novel mutation in the cardiac ryanodine receptor that results in catecholaminergic polymorphic ventricular tachycardia. 20676041

2011

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE Importantly, RYR2 p.P164S is associated with the risk of sudden cardiac death, such as in catecholaminergic polymorphic ventricular tachycardia. 29132927

2019

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE Three cases showed RYR2 mutations, which are responsible for CPVT.We also found a novel KCNQ1 mutation. 19261510

2009

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE This study identifies a potentially lethal overlapping syndrome of LVNC and atypical CPVT related to a novel RYR2 variant. 27646203

2017

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE The penetrance of CPVT phenotype was significantly higher in RYR2 mutation carriers, thus RYR2 gene screening in CPVT patients would be indispensable to prevent unexpected cardiac sudden death of young family members. 23595086

2013

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE We aimed to elucidate arrhythmia mechanisms in a RyR2-linked CPVT mutation (RyR2-A4860G) that depresses channel activity. 25775566

2015

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE RyR2 mutations were detected frequently in CPVT but not in other diseases. 16843546

2007

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE Mutations in the cardiac ryanodine receptor gene (RYR2) cause an autosomal dominant form of CPVT, while mutations in the cardiac calsequestrin 2 gene (CASQ2) cause an autosomal recessive form. 27157848

2016

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE Recombinant channels harboring CPVT-linked RyR2 mutations were functionally characterized using tritiated ryanodine binding and single-channel recordings. 23152493

2013

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a familial arrhythmogenic disorder associated with mutations in the cardiac ryanodine receptor (RyR2) and cardiac calsequestrin (CASQ2) genes. 16601229

2006

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE The current study firstly reported a case with CPVT associated with a mutant of RYR2 at c.7580T > G in children. 29668588

2018

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE To that end, we have designed a CaM protein (GSH-M37Q; dubbed as therapeutic CaM or T-CaM) that exhibited a slowed N-terminal Ca dissociation rate and prolonged RyR2 refractoriness in permeabilized myocytes derived from CPVT mice carrying the CASQ2 mutation R33Q. 29720499

2018

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE The exercise testing unmasked catecholaminergic polymorphic ventricular tachycardia in 8 relatives (sensitivity = 89%; positive predictive value = 100%; negative predictive value = 93%), all of them carrying the heterozygous RyR2(R420Q) mutation, which was also present in the proband and a young girl without exercise testing, a 91% penetrance at the end of the follow-up. 25440180

2015

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE Deletion mutants of unc-68, and in particular the point mutant UNC-68(R4743C), analogous to the established human CPVT mutant RyR2(R4497C), were unable to follow 3.7 Hz pacing, with progressive defects during long stimulus trains. 29235522

2017

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation UNIPROT These results also suggest that altered cytosolic Ca<sup>2+</sup> activation of RyR2 represents a common defect of RyR2 mutations associated with CPVT and AF, which could potentially be suppressed by carvedilol or (R)-carvedilol. 27733687

2016

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE iPS cells were derived from dermal fibroblasts of healthy donors and a patient with CPVT1 carrying the novel heterozygous autosomal dominant mutation p.F2483I in the RYR2. 22178870

2011

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE Spontaneous Ca<sup>2+</sup> sparks in cardiomyocytes and inducible ventricular tachycardia were assessed in a CPVT mouse model, which is heterozygous for the R176Q mutation in RyR2 (R176Q/+ mice) in the presence of EL20 or vehicle. 29248564

2018

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation UNIPROT Putative pathogenic CPVT1-causing mutations in RyR2 were detected in 6% of unrelated, genotype-negative LQTS referrals. 16188589

2005

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE Our results uncover a mechanism for the CPVT-causing RyR2 N-terminal mutation R420Q, and they highlight the fact that enhancing the Ca2+ clock may slow the heart rhythm by disturbing the coupling between Ca2+ and voltage clocks. 28422759

2017

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation CLINVAR Ryanodine receptors: structure, expression, molecular details, and function in calcium release. 20961976

2010

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation CLINVAR Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. 23595086

2013

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE Epinephrine infusion induced arrhythmias in 3 (12%) RYR2-mutation carriers, 4 (36%) genetically undefined CPVT patients, and 1 (2%) unaffected family member. 21954897

2012

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE Furthermore, two CPVT-inducing CASQ2 mutations, which cause mechanistically different defects in CASQ2 and RyR2 function, lead to increased diastolic SR Ca release events and exhibit a similar CPVT disease phenotype. 18469084

2008