Ichthyosis and erythrokeratoderma

Gene: DSG2

Red List (low evidence)

DSG2 (desmoglein 2)
EnsemblGeneIds (GRCh38): ENSG00000046604
EnsemblGeneIds (GRCh37): ENSG00000046604
OMIM: 125671, Gene2Phenotype
DSG2 is in 9 panels

2 reviews

Ellen Thomas (Genomics England Curator)

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Green to Red: The desmosomal gene DSG2 was originally included as a Green gene on the panel because the eligibility statement prior genetic testing listed "Striate keratoderma with woolly hair: cardiac panel including desmosomal genes". However, after discussion with the clinical team (Ellen Thomas and Helen Brittain), we agreed there is no strong link between the DSG2 gene and PPK phenotype. Note that other cardiac genes JUP, DSP, DSC2 and KANK2 have been implicated with the keratoderma and woolly hair phenotype, and have been rated accordingly.
Created: 3 Apr 2017, 8:52 a.m.
Comment on list classification: Updated rating from Red to Green: desmosomal genes are included in the Eligibility statement prior genetic testing list.
Created: 10 Jan 2017, 3:32 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 10 Cardiomyopathy, dilated, 1BB
  • Striate keratoderma with woolly hair
OMIM
125671
Clinvar variants
Variants in DSG2
Penetrance
None
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: DSG2 was added gene: DSG2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red Mode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DSG2 were set to Arrhythmogenic right ventricular dysplasia 10 Cardiomyopathy, dilated, 1BB; Striate keratoderma with woolly hair