This Panel is marked as Retired
Dilated Cardiomyopathy (DCM)
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
1 review
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- OMIM
- 602861
- Clinvar variants
- Variants in PKP2
- Penetrance
- Complete
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Palmoplantar keratodermas
- Dilated and arrhythmogenic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Dilated Cardiomyopathy and conduction defects
- Arrhythmogenic right ventricular cardiomyopathy
- Fetal anomalies
- Short QT syndrome
- Hereditary neuropathy
- Brugada syndrome and cardiac sodium channel disease
History Filter Activity
11 Feb 2016, Gel status: 0
Approved Gene
Caroline Wright (Genomics England Curator)This proposed gene was validated and added to this panel
6 Jan 2016, Gel status: 0
Added New Source
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)PKP2 was added to Dilated Cardiomyopathy (DCM)panel. Sources: Oxford Medical Genetics Laboratory
6 Jan 2016, Gel status: 0
Created
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)PKP2 was created by OxfordGenetics