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 delayed diagnosis of catecholaminergic polymorphic ventricular tachycardia with a mutant of RYR2 at c.7580T>G for 6 years in a 9-year-old child. 29668588

2018

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation UNIPROT Interestingly, the central domain encompasses one of the mutation hotspots (corresponding to amino acid residues 3778-4201) that contains a number of cardiac RyR (RyR2) mutations associated with catecholaminergic polymorphic ventricular tachycardia (CPVT) and atrial fibrillation (AF). 27733687

2017

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE Catecholaminergic polymorphic ventricular tachycardia (CPVT) is one of the most lethal inherited cardiac arrhythmias mostly linked to cardiac ryanodine receptor (RyR2) mutations with high disease penetrance. 28961276

2017

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Associated With Ryanodine Receptor (RyR2) Gene Mutations - Long-Term Prognosis After Initiation of Medical Treatment. 27452199

2017

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE The aim of this study was to characterise disease penetrance, course of disease and use of antiarrhythmic medication and implantable cardioverter-defibrillator (ICD) therapy in a Danish nationwide cohort of patients with catecholaminergic polymorphic ventricular tachycardia (CPVT) due to mutations in the ryanodine receptor-2 (<i>RyR2</i>) gene. 28237968

2017

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 Biomarker CLINGEN A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia. 27988446

2017

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation UNIPROT We also showed that racemic carvedilol and the non-beta-blocking carvedilol enantiomer, (R)-carvedilol, suppressed spontaneous Ca<sup>2+</sup> oscillations in HEK293 cells expressing the central domain RyR2 mutations associated with CPVT and AF. 27733687

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

2017

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 Biomarker BEFREE Mutations in the skeletal muscle ryanodine receptor (RyR1) cause malignant hyperthermia (MH) and central core disease (CCD), whereas mutations in the cardiac ryanodine receptor (RyR2) lead to catecholaminergic polymorphic ventricular tachycardia (CPVT). 28687594

2017

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 AlteredExpression BEFREE In conclusion, RyR2 activity determines the potency of open-state blockers FLEC and RPROP for suppressing arrhythmogenic Ca2+ waves in cardiomyocytes, a mechanism likely relevant to antiarrhythmic drug efficacy in CPVT. 26121139

2016

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 Biomarker BEFREE PCR and bidirectional Sanger sequencing of genes important for long QT syndrome (LQTS), short QT syndrome (SQTS), Brugada syndrome type 1 (BrS1), and catecholaminergic polymorphic ventricular tachycardia (CPVT) (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, and RYR2) was performed. 26228265

2016

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 Biomarker BEFREE The enhanced RyR2 [Ca(2+)]i sensitivity during CPVT leads to increased Ca(2+) spark fidelity resulting in asynchronous systolic Ca(2+) spark activity. 26827896

2016

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE We assessed the antiarrhythmic efficacy of dantrolene in six patients carrying various RyR2 mutations causing CPVT. 25955245

2016

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 CausalMutation CLINVAR Catecholaminergic polymorphic ventricular tachycardia (CPVT) is one of the causes of sudden cardiac death in young people and results from RYR2 mutations in ~60% of CPVT patients. 26114861

2016

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE In the current study, a previously validated bespoke array comparative genomic hybridization (aCGH) technique was used to detect copy number changes in the RYR2 gene in a 43-year-old woman clinically diagnosed with CPVT. 25835811

2016

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients. 26114861

2016

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE This case supports the idea that RYR2 deletions cause a severe subtype of CPVT associated with LVNC and suggests LVNC may play a role in exacerbating the arrhythmias of CPVT. 26018045

2016

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 CausalMutation CLINVAR In 36 symptomatic CPVT probands with RYR2 mutations, we genotyped their parents and confirmed the origin of the respective mutation. 26114861

2016

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 CausalMutation CLINVAR Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients. 26114861

2016

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE A novel cardiac ryanodine receptor gene (RyR2) mutation in an athlete with aborted sudden cardiac death: a case of adult-onset catecholaminergic polymorphic ventricular tachycardia. 25092222

2016

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 Biomarker BEFREE Our data support a model of flecainide action in which Na(+)-dependent modulation of intracellular Ca(2+) handling attenuates RyR2 dysfunction in CPVT. 25648700

2015

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 GeneticVariation BEFREE This study aimed to screen for the RYR2 exon 3 deletion in CPVT probands, characterize its clinical pathology, and confirm the genomic rearrangement. 24394973

2015

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 Biomarker BEFREE Leaky RyR2 may be an under-recognized mechanism for idiopathic PMVT at rest. 25463374

2015