Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
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0.830 | GeneticVariation | BEFREE | To determine if somatic in vivo genome editing using the CRISPR/Cas9 system delivered by adeno-associated viral (AAV) vectors could correct catecholaminergic polymorphic ventricular tachycardia arrhythmias in mice heterozygous for RyR2 mutation R176Q (R176Q/+). | 30355031 | 2018 |
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0.830 | GeneticVariation | BEFREE | Our data also suggest that CaM dissociation may contribute to the pathogenesis of arrhythmias with the CPVT-linked R176Q mutation. | 29248564 | 2018 |
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0.830 | GeneticVariation | BEFREE | Confocal microscopy was used to assess the effects of tetracaine and 9 derivatives (EL1-EL9) on spontaneous Ca<sup>2+</sup> sparks in ventricular myocytes isolated from RyR2-R176Q/+ mice with CPVT. | 27838126 | 2017 |
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0.830 | GeneticVariation | UNIPROT | Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. | 27854360 | 2017 |
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A | 0.830 | CausalMutation | CLINVAR | Leaky RyR2 channels unleash a brainstem spreading depolarization mechanism of sudden cardiac death. | 27482086 | 2016 |
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0.830 | GeneticVariation | UNIPROT | ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. | 25356965 | 2015 |
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A | 0.830 | CausalMutation | CLINVAR | Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. | 24136861 | 2014 |
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0.830 | GeneticVariation | UNIPROT | ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. | 23788249 | 2013 |
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0.830 | GeneticVariation | UNIPROT | Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. | 23994779 | 2013 |
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A | 0.830 | CausalMutation | CLINVAR | New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. | 24025405 | 2013 |
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A | 0.830 | CausalMutation | CLINVAR | Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis. | 21454795 | 2011 |
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0.830 | GeneticVariation | UNIPROT | HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). | 21810866 | 2011 |
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A | 0.830 | CausalMutation | CLINVAR | Accelerated development of pressure overload-induced cardiac hypertrophy and dysfunction in an RyR2-R176Q knockin mouse model. | 20157052 | 2010 |
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A | 0.830 | CausalMutation | CLINVAR | High prevalence of exercise-induced arrhythmias in catecholaminergic polymorphic ventricular tachycardia mutation-positive family members diagnosed by cascade genetic screening. | 20106799 | 2010 |
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A | 0.830 | CausalMutation | CLINVAR | The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. | 19926015 | 2009 |
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A | 0.830 | CausalMutation | CLINVAR | Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. | 18752142 | 2008 |
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A | 0.830 | CausalMutation | CLINVAR | Mice with the R176Q cardiac ryanodine receptor mutation exhibit catecholamine-induced ventricular tachycardia and cardiomyopathy. | 16873551 | 2006 |
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A | 0.830 | CausalMutation | CLINVAR | Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing. | 16188589 | 2005 |
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A | 0.830 | CausalMutation | CLINVAR | Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). | 11159936 | 2001 |