Brugada syndrome

Gene: PKP2

Red List (low evidence)

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

3 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

Arrhythmogenic right ventricular dysplasia 9 (OMIM 609040)
Created: 25 Mar 2019, 4:30 p.m.
Gene mainly associated with ARVC. NO strong evidence for Brugada - only 1 publication. PMID:24352520
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

James Eden (Manchester)

Red List (low evidence)

Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date in Brugada patients. 292 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: disputed association with Brugada syndrome, definitive association with arrhythmogenic right ventricular dysplasia 9 (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

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red review here.The gene-disease summary was downloaded on 20th Feb 2019.For the full report and publications see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity/10156
Created: 20 Feb 2019, 2:47 p.m.
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.
On the Inherited Cardiac Condition Genes panel for Brugada syndrome reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.​1007/​s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 5.
Created: 19 Feb 2016, 11:27 a.m.

Mode of inheritance
Disputed

Phenotypes
Brugada syndrome 1; MONDO_0011001

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Literature
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 9 (609040)
  • Brugada syndrome
  • Arrhythmogenic right ventricular cardiomyopathy
  • Dilated cardiomyopathy
OMIM
602861
Clinvar variants
Variants in PKP2
Penetrance
Complete
Publications
Panels with this gene

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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 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.

14 Feb 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to PKP2. Mode of inheritance for gene PKP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Arrhythmogenic right ventricular dysplasia 9 (609040) for gene: PKP2 Publications for gene PKP2 were changed from 24352520; doi:10.​1007/​s12265-016-9673-5 to 27085656; 27761167

19 Feb 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PKP2 was added to Brugada syndromepanel. Sources: Literature

19 Feb 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PKP2 was created by ellenmcdonagh