×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Electrocardiogram change
0.100
CausalMutation
CLINVAR
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257 2017
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Electrocardiogram change
0.100
CausalMutation
CLINVAR
Exploring digenic inheritance in arrhythmogenic cardiomyopathy.
29221435 2017
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Electrocardiogram change
0.100
CausalMutation
CLINVAR
Evaluation of Structural Progression in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy.
28097316 2017
×
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
Electrocardiogram change
0.100
CausalMutation
CLINVAR
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
26805781 2016
×
Entrez Id: 55800
Gene Symbol: SCN3B
SCN3B
Electrocardiogram change
0.100
CausalMutation
CLINVAR
Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.
27435932 2016
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Electrocardiogram change
0.100
CausalMutation
CLINVAR
Maturation-Based Model of Arrhythmogenic Right Ventricular Dysplasia Using Patient-Specific Induced Pluripotent Stem Cells.
25971409 2015
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Electrocardiogram change
0.100
CausalMutation
CLINVAR
Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members.
25820315 2015
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Electrocardiogram change
0.100
CausalMutation
CLINVAR
Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermis.
24704780 2014
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Electrocardiogram change
0.100
CausalMutation
CLINVAR
Reply: The MOGE(S) classification for a phenotype-genotype nomenclature of cardiomyopathy: more questions than answers?
24768880 2014
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Electrocardiogram change
0.100
CausalMutation
CLINVAR
Studying arrhythmogenic right ventricular dysplasia with patient-specific iPSCs.
23354045 2013
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Electrocardiogram change
0.100
CausalMutation
CLINVAR
Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations.
21723241 2011
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Electrocardiogram change
0.100
CausalMutation
CLINVAR
Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.
20857253 2010
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Electrocardiogram change
0.100
CausalMutation
CLINVAR
Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.
20152563 2010
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Electrocardiogram change
0.100
CausalMutation
CLINVAR
Recurrent and founder mutations in the Netherlands : Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia.
21301620 2010
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Electrocardiogram change
0.100
CausalMutation
CLINVAR
The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy.
20197793 2010
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Electrocardiogram change
0.100
CausalMutation
CLINVAR
Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
20031617 2009
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Electrocardiogram change
0.100
CausalMutation
CLINVAR
Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.
20031616 2009
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Electrocardiogram change
0.100
CausalMutation
CLINVAR
Characterization of the molecular phenotype of two arrhythmogenic right ventricular cardiomyopathy (ARVC)-related plakophilin-2 (PKP2) mutations.
19084810 2008
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Electrocardiogram change
0.100
CausalMutation
CLINVAR
Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.
16567567 2006
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Electrocardiogram change
0.100
CausalMutation
CLINVAR
Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
17010805 2006
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Electrocardiogram change
0.100
CausalMutation
CLINVAR
Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2.
16549640 2006
×
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Electrocardiogram change
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 287
Gene Symbol: ANK2
ANK2
Electrocardiogram change
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
Electrocardiogram change
0.100
CausalMutation
CLINVAR
×
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Electrocardiogram change
0.100
CausalMutation
CLINVAR