Dilated Cardiomyopathy and conduction defects
Gene: DSG2EnsemblGeneIds (GRCh38): ENSG00000046604
EnsemblGeneIds (GRCh37): ENSG00000046604
OMIM: 125671, Gene2Phenotype
DSG2 is in 10 panels
4 reviews
Rebecca Whittington (South West GLH)
Arrhythmogenic right ventricular dysplasia 10, OMIM#610193; Cardiomyopathy, dilated, 1BB OMIM#612877Created: 25 Mar 2019, 4:30 p.m.
HGMD: 2 variants classed DM with DCM: Garcia-Pavia (2011) Heart 97: 1744 - Four variants in patients with DCM only one classed as pathogenic as frameshift. Walsh 2017 (Walsh (2017) Genet Med 19: 192) - 1 variant VUS -4 which was classed as pathogenic by Elliot 2010 ( Elliott (2010) Circ Cardiovasc Genet 3: 314 ) and NG 2013 (Ng (2013) Circ Cardiovasc Genet 6: 337) but has a freq of 0.0079%. No family studies but two variants identified in patients with a second variant and FH.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)
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.
Caroline Wright (Genomics England Curator)
Comment when marking as ready: Causes ARVC; Not on Manchester diagnostic panel for DCMCreated: 14 Feb 2016, 4:16 p.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- London South GLH
- Expert Review Red
- Expert list
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Cardiomyopathy, dilated, 1BB,
- OMIM
- 125671
- Clinvar variants
- Variants in DSG2
- Penetrance
- Complete
- Panels with this gene
-
- Palmoplantar keratodermas
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Ichthyosis and erythrokeratoderma
- COVID-19 research
- Dilated Cardiomyopathy and conduction defects
- Arrhythmogenic right ventricular cardiomyopathy
- Dilated and arrhythmogenic cardiomyopathy
- Palmoplantar keratoderma and erythrokeratodermas
History Filter Activity
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to DSG2. Mode of inheritance for gene DSG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to DSG2.
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene DSG2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)DSG2 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene DSG2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)DSG2 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene DSG2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)DSG2 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)DSG2 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list