1. Panels
  2. Molecular autopsy
  3. PKP2
Genes in panel
Prev Next
STRs in panel
Prev Next

Molecular autopsy

Gene: PKP2

Green List (high evidence)
PKP2 (plakophilin 2)
EnsemblGeneIds (GRCh38): ENSG00000057294
EnsemblGeneIds (GRCh37): ENSG00000057294
OMIM: 602861, Gene2Phenotype
PKP2 is in 10 panels

2 reviews

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.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: 0.86

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

Created: 14 Feb 2019, 1:38 p.m.

Panel version: 0.82

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London South GLH
  • North West GLH
  • Expert Review Green
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 9
  • Brugada syndrome
  • Arrhythmogenic right ventricular cardiomyopathy
  • Dilated cardiomyopathy
  • Arrhythmogenic right ventricular dysplasia 9 (609040)
OMIM
602861
Clinvar variants
Variants in PKP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to PKP2.

14 Feb 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to PKP2. Added phenotypes Arrhythmogenic right ventricular dysplasia 9 (609040) for gene: PKP2 Publications for gene PKP2 were changed from 24352520; 26888179; doi:10. 1007/ s12265-016-9673-5 to 27532257; 27761167; 23500315; 27085656; 19862833; 16301704; 30420954

20 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Arrhythmogenic right ventricular cardiomyopathy; Dilated cardiomyopathy; Brugada syndrome for gene: PKP2 Publications for gene PKP2 were changed from to 24352520; 26888179; doi:10. 1007/ s12265-016-9673-5

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PKP2 was added gene: PKP2 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular dysplasia 9; Arrhythmogenic right ventricular cardiomyopathy