Arrhythmogenic right ventricular cardiomyopathy
Gene: PKP2
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 1:28 p.m. | Last Modified: 2 Dec 2019, 1:28 p.m.
Panel Version: 1.45
On CGGL Royal Brompton ACM panel, multiple pathogenic and likely pathogenic variants reported. Definitive ARVC gene.Created: 18 Sep 2019, 10:01 p.m. | Last Modified: 18 Sep 2019, 10:01 p.m.
Panel Version: 1.36
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
OMIM: Arrhythmogenic right ventricular dysplasia 9
Variants in this GENE are reported as part of current diagnostic practice
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
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.
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
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Source London South GLH was added to PKP2.
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 to 27532257; 23500315 Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
PKP2 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene PKP2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PKP2 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert list
Model of inheritance for gene PKP2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PKP2 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert list
Model of inheritance for gene PKP2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PKP2 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert list
Model of inheritance for gene PKP2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PKP2 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert list
PKP2 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert list