Palmoplantar keratoderma and erythrokeratodermas
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
Ellen Thomas (Genomics England Curator)
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
- Eligibility statement prior genetic testing
- UKGTN
- Phenotypes
-
- Striate keratoderma with woolly hair
- Arrhythmogenic right ventricular dysplasia 10 Cardiomyopathy, dilated, 1BB
- OMIM
- 125671
- Clinvar variants
- Variants in DSG2
- Penetrance
- Complete
- Panels with this gene
-
- Palmoplantar keratoderma and erythrokeratodermas
- Ichthyosis and erythrokeratoderma
- Palmoplantar keratodermas
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Dilated and arrhythmogenic cardiomyopathy
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- COVID-19 research
- Arrhythmogenic right ventricular cardiomyopathy
History Filter Activity
11 Apr 2017, Gel status: 1
panel promoted to version 1
Rebecca Foulger (Genomics England curator)Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
3 Apr 2017, Gel status: 1
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
10 Jan 2017, Gel status: 4
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
27 Oct 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)DSG2 was created by ellenmcdonagh
27 Oct 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)DSG2 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Eligibility statement prior genetic testing, UKGTN