Paediatric or syndromic cardiomyopathy
Gene: DSG2
DSG2 (desmoglein 2)
EnsemblGeneIds (GRCh38): ENSG00000046604
EnsemblGeneIds (GRCh37): ENSG00000046604
OMIM: 125671, Gene2Phenotype
DSG2 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000046604
EnsemblGeneIds (GRCh37): ENSG00000046604
OMIM: 125671, Gene2Phenotype
DSG2 is in 10 panels
2 reviews
Ivone Leong (Genomics England Curator)
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, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Rebecca Whittington (South West GLH)
Arrhythmogenic right ventricular dysplasia 10, OMIM#610193; Cardiomyopathy, dilated, 1BB OMIM#612877Created: 25 Mar 2019, 4:30 p.m.
PubMED: 29567486 - core gene. Lots of entries on HGMDPro for ARVC - including good evidence. Rasmussen Hum Mutat 00:19, 2013 presented a 12 family case series where two families had affected individuals of 17, 19 and 15 years of age with early onset ARVC.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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- South West GLH
- Expert Review Green
- Phenotypes
-
- Cardiomyopathy, dilated, 1BB,
- Arrhythmogenic right ventricular dysplasia 10
- OMIM
- 125671
- Clinvar variants
- Variants in DSG2
- Penetrance
- None
- 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
2 Dec 2019, Gel status: 3
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to DSG2.
4 Sep 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: DSG2 was added gene: DSG2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DSG2 were set to Cardiomyopathy, dilated, 1BB,; Arrhythmogenic right ventricular dysplasia 10