Arrhythmogenic right ventricular cardiomyopathy
Gene: DSC2
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. Definitive ARVC gene.Created: 18 Sep 2019, 9:47 p.m. | Last Modified: 18 Sep 2019, 9:47 p.m.
Panel Version: 1.36
Phenotypes
610476 Arrhythmogenic right ventricular dysplasia 11
Publications
Variants in this GENE are reported as part of current diagnostic practice
Arrhythmogenic right ventricular dysplasia 11 (610476)Created: 25 Mar 2019, 4:30 p.m.
PubMED: 29567486 - core gene. Lots of entries for ARVC for this gene including functional evidence. One class 4 assoc with LVNC - others weak Class 3.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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. 88 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: association with arrhythmogenic right ventricular dysplasia 11 (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 11 (610476); Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DSC2 were set to 27532257; 23500315
Source South West GLH was added to DSC2. Mode of inheritance for gene DSC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source London South GLH was added to DSC2.
Source North West GLH was added to DSC2. Added phenotypes Arrhythmogenic right ventricular dysplasia 11 (610476); Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476) for gene: DSC2 Publications for gene DSC2 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).
Model of inheritance for gene DSC2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DSC2 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Expert list
Model of inheritance for gene DSC2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DSC2 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Expert list
Model of inheritance for gene DSC2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DSC2 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Expert list
Model of inheritance for gene DSC2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DSC2 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Expert list
DSC2 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Expert list