Dilated and arrhythmogenic cardiomyopathy
Gene: PKP2EnsemblGeneIds (GRCh38): ENSG00000057294
EnsemblGeneIds (GRCh37): ENSG00000057294
OMIM: 602861, Gene2Phenotype
PKP2 is in 10 panels
7 reviews
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
On CGGL Royal Brompton DCm panel. Definitive ARVC gene, appropriate for DCM panel due to possible phenotypic overlapCreated: 19 Sep 2019, 10 p.m. | Last Modified: 19 Sep 2019, 10 p.m.
Panel Version: 0.44
Variants in this GENE are reported as part of current diagnostic practice
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 3 Dec 2019, 2:28 p.m. | Last Modified: 3 Dec 2019, 2:28 p.m.
Panel Version: 0.52
PKP2 is a green gene on the Arrhythmogenic cardiomyopathy (code: 134, version 1.25). It has been promoted from amber to green in this panel as the GMS Cardiology Specialist Group decided that all green genes that are present on the Arrhythmogenic cardiomyopathy panel should also be green on this panel because of the overlap in clinical presentation.Created: 4 Sep 2019, 10:51 a.m. | Last Modified: 4 Sep 2019, 10:51 a.m.
Panel Version: 0.37
Rebecca Whittington (South West GLH)
Arrhythmogenic right ventricular dysplasia 9 (609040)Created: 25 Mar 2019, 4:30 p.m.
PubMED: 29567486 - core gene. Lots of reports on HGMDPro assoc with ARVC /Brugada- strong evidence with this. Class5 variants reported at BGL assoc with arrhythmia.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.
James Eden (Manchester)
Gene currently tested on Manchester cardiac gene panel. 292 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with arrhythmogenic right ventricular dysplasia 9, disputed association with Brugada syndrome (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Arrhythmogenic right ventricular dysplasia 9 (609040)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Bill Newman (Manchester Centre for Genomic Medicine)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert List
- Expert Review Green
- South West GLH
- London South GLH
- North West GLH
- Phenotypes
-
- Arrhythmogenic right ventricular cardiomyopathy
- Arrhythmogenic right ventricular dysplasia 9
- Arrhythmogenic right ventricular dysplasia 9 (609040)
- OMIM
- 602861
- Clinvar variants
- Variants in PKP2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Palmoplantar keratodermas
- Hereditary neuropathy
- 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
- Hereditary neuropathy or pain disorder
- Arrhythmogenic right ventricular cardiomyopathy
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: PKP2 was added gene: PKP2 was added to Dilated cardiomyopathy - adult and teen. Sources: Expert Review Green,Expert List Mode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PKP2 were set to 23500315; 27532257 Phenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular cardiomyopathy; Arrhythmogenic right ventricular dysplasia 9; Arrhythmogenic right ventricular dysplasia 9 (609040)