|
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
|
0.420 |
GeneticVariation
|
disease |
CLINVAR |
Nationwide experience of catecholaminergic polymorphic ventricular tachycardia caused by RyR2 mutations.
|
28237968 |
2017 |
|
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
|
0.420 |
Biomarker
|
disease |
CLINGEN |
A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia.
|
27988446 |
2017 |
|
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
|
0.420 |
GeneticVariation
|
disease |
CLINVAR |
Implantable Loop Recorder Monitoring for Refining Management of Children With Inherited Arrhythmia Syndromes.
|
27231019 |
2016 |
|
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
|
0.420 |
CausalMutation
|
disease |
CLINVAR |
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.
|
24136861 |
2014 |
|
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
|
0.420 |
CausalMutation
|
disease |
CLINVAR |
New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia.
|
24025405 |
2013 |
|
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
|
0.420 |
GeneticVariation
|
disease |
BEFREE |
Using polymerase chain reaction, denaturing high-performance liquid chromatography, and DNA sequencing, a comprehensive mutational analysis of the long QT syndrome susceptibility genes (KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2) and a targeted analysis of the catecholaminergic polymorphic ventricular tachycardia type 1-associated gene (RYR2) were conducted.
|
22677073 |
2012 |
|
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
|
0.420 |
GeneticVariation
|
disease |
BEFREE |
Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) is an inherited cardiac disorder that is caused by mutations in the cardiac ryanodine receptor type 2 gene (RYR2) and is characterized by stress-induced ventricular arrhythmia that can lead to sudden cardiac death in young individuals.
|
22178870 |
2011 |
|
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
|
0.420 |
CausalMutation
|
disease |
CLINVAR |
Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis.
|
21454795 |
2011 |
|
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
|
0.420 |
Biomarker
|
disease |
CLINGEN |
Mutation-linked defective interdomain interactions within ryanodine receptor cause aberrant Ca²⁺release leading to catecholaminergic polymorphic ventricular tachycardia.
|
21768539 |
2011 |
|
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
|
0.420 |
CausalMutation
|
disease |
CLINVAR |
High prevalence of exercise-induced arrhythmias in catecholaminergic polymorphic ventricular tachycardia mutation-positive family members diagnosed by cascade genetic screening.
|
20106799 |
2010 |
|
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
|
0.420 |
CausalMutation
|
disease |
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 |
|
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
|
0.420 |
CausalMutation
|
disease |
CLINVAR |
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.
|
18752142 |
2008 |
|
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
|
0.420 |
Biomarker
|
disease |
CLINGEN |
Leaky Ca2+ release channel/ryanodine receptor 2 causes seizures and sudden cardiac death in mice.
|
18483626 |
2008 |
|
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
|
0.420 |
GeneticVariation
|
disease |
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 |
|
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
|
0.420 |
CausalMutation
|
disease |
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 |
|
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
|
0.420 |
GeneticVariation
|
disease |
CLINVAR |
Unusual clinical presentation in a family with catecholaminergic polymorphic ventricular tachycardia due to a G14876A ryanodine receptor gene mutation.
|
15721128 |
2005 |
|
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
|
0.420 |
GeneticVariation
|
disease |
CLINVAR |
Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms.
|
14571276 |
2003 |
|
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
|
0.420 |
Biomarker
|
disease |
CLINGEN |
FKBP12.6 deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac death.
|
12837242 |
2003 |
|
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
|
0.420 |
Biomarker
|
disease |
CLINGEN |
Enhanced basal activity of a cardiac Ca2+ release channel (ryanodine receptor) mutant associated with ventricular tachycardia and sudden death.
|
12169647 |
2002 |
|
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
|
0.420 |
Biomarker
|
disease |
CLINGEN |
Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia.
|
11157710 |
2001 |
|
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
|
0.420 |
Biomarker
|
disease |
CLINGEN |
Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia.
|
11208676 |
2001 |
|
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
|
0.420 |
Biomarker
|
disease |
CLINGEN |
PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts.
|
10830164 |
2000 |
|
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
|
0.420 |
Biomarker
|
disease |
CLINGEN |
Molecular cloning of cDNA encoding the Ca2+ release channel (ryanodine receptor) of rabbit cardiac muscle sarcoplasmic reticulum.
|
2380170 |
1990 |