This Panel is marked as Internal
Cardiac arrhythmias - previous panel
Gene: PKP2
PKP2 (plakophilin 2)
EnsemblGeneIds (GRCh38): ENSG00000057294
EnsemblGeneIds (GRCh37): ENSG00000057294
OMIM: 602861, Gene2Phenotype
PKP2 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000057294
EnsemblGeneIds (GRCh37): ENSG00000057294
OMIM: 602861, Gene2Phenotype
PKP2 is in 10 panels
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Brugada syndrome
- Arrhythmogenic right ventricular cardiomyopathy
- Dilated cardiomyopathy
- OMIM
- 602861
- Clinvar variants
- Variants in PKP2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Palmoplantar keratodermas
- Dilated and arrhythmogenic cardiomyopathy
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Arrhythmogenic right ventricular cardiomyopathy
- Short QT syndrome
- Fetal anomalies
- Hereditary neuropathy
- Brugada syndrome and cardiac sodium channel disease
- Hereditary neuropathy or pain disorder
History Filter Activity
28 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Eleanor Williams: Sources: Literature
17 Dec 2018, Gel status: 1
Set Phenotypes
Rebecca Foulger (Genomics England curator)Added phenotypes Brugada syndrome; Arrhythmogenic right ventricular cardiomyopathy; Dilated cardiomyopathy for gene: PKP2
17 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications
Rebecca Foulger (Genomics England curator)gene: PKP2 was added gene: PKP2 was added to Cardiac arrythmias. Sources: Expert Review Red Mode of inheritance for gene: PKP2 was set to Unknown Publications for gene: PKP2 were set to 24352520; 26888179; doi:10. 1007/ s12265-016-9673-5