Palmoplantar keratoderma and erythrokeratodermas
Gene: DES
DES (desmin)
EnsemblGeneIds (GRCh38): ENSG00000175084
EnsemblGeneIds (GRCh37): ENSG00000175084
OMIM: 125660, Gene2Phenotype
DES is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000175084
EnsemblGeneIds (GRCh37): ENSG00000175084
OMIM: 125660, Gene2Phenotype
DES is in 15 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 DES 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 DES 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, 8:51 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, 3:31 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
- Cardiomyopathy, dilated, 1I
- OMIM
- 125660
- Clinvar variants
- Variants in DES
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Gastrointestinal neuromuscular disorders
- Dilated Cardiomyopathy and conduction defects
- Distal myopathies
- Palmoplantar keratoderma and erythrokeratodermas
- Ichthyosis and erythrokeratoderma
- Hereditary neuropathy or pain disorder
- Progressive cardiac conduction disease
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- 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).
10 Jan 2017, Gel status: 2
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Amber List (Moderate Evidence).
27 Oct 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)DES was created by ellenmcdonagh
27 Oct 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)DES was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Eligibility statement prior genetic testing, UKGTN