Dilated Cardiomyopathy and conduction defects
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
3 reviews
Rebecca Whittington (South West GLH)
Arrhythmogenic right ventricular dysplasia 9 OMIM#609040Created: 25 Mar 2019, 4:30 p.m.
HGMD: 8 variants assoc with DCM all ?DM, 6 reported by Walsh, 1 x Dal Ferro and 1 x Elliot 2010: This variant p.Ser140Phe was detected in three unrelated DCM patients. No family studies.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- London South GLH
- Expert Review Red
- OMIM
- 602861
- Clinvar variants
- Variants in PKP2
- Penetrance
- Complete
- Panels with this gene
-
- Palmoplantar keratodermas
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Dilated and arrhythmogenic cardiomyopathy
- Short QT syndrome
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Brugada syndrome and cardiac sodium channel disease
- Arrhythmogenic right ventricular cardiomyopathy
History Filter Activity
21 Feb 2019, Gel status: 1
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to PKP2. Mode of inheritance for gene PKP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Feb 2019, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to PKP2.
19 Feb 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
6 Jan 2016, Gel status: 0
Added New Source
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)PKP2 was added to Dilated Cardiomyopathy and conduction defectspanel. 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