Dilated cardiomyopathy - adult and teen

Gene: PKP2

Green List (high evidence)

PKP2 (plakophilin 2)
EnsemblGeneIds (GRCh38): ENSG00000057294
EnsemblGeneIds (GRCh37): ENSG00000057294
OMIM: 602861, Gene2Phenotype
PKP2 is in 9 panels

7 reviews

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

On CGGL Royal Brompton DCm panel. Definitive ARVC gene, appropriate for DCM panel due to possible phenotypic overlap
Created: 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)

Green List (high evidence)

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)

Green List (high evidence)

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)

I don't know

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)

Green List (high evidence)

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)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Green List (high evidence)

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

History Filter Activity

4 Sep 2019, Gel status: 3

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)