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  3. DSG2
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Molecular autopsy

Gene: DSG2

Green List (high evidence)
DSG2 (desmoglein 2)
EnsemblGeneIds (GRCh38): ENSG00000046604
EnsemblGeneIds (GRCh37): ENSG00000046604
OMIM: 125671, Gene2Phenotype
DSG2 is in 10 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

I don't know

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.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: 0.86

James Eden (Manchester)

Green List (high evidence)

Gene currently tested on Manchester cardiac gene panel. 132 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 10 (610193); Cardiomyopathy, dilated, 1BB (612877)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Feb 2019, 1:38 p.m.

Panel version: 0.82

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London South GLH
  • North West GLH
  • Expert Review Green
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 10 (610193)
  • Cardiomyopathy, dilated, 1BB (612877)
  • Cardiomyopathy, dilated, 1BB,
  • Arrhythmogenic right ventricular dysplasia 10
OMIM
125671
Clinvar variants
Variants in DSG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to DSG2.

14 Feb 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to DSG2. Added phenotypes Cardiomyopathy, dilated, 1BB (612877); Arrhythmogenic right ventricular dysplasia 10 (610193) for gene: DSG2 Publications for gene DSG2 were changed from to 27532257; 23500315

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: DSG2 was added gene: DSG2 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DSG2 were set to Cardiomyopathy, dilated, 1BB,; Arrhythmogenic right ventricular dysplasia 10