Ichthyosis and erythrokeratoderma
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
- Phenotypes
-
- Striate keratoderma with woolly hair
- Cardiomyopathy, dilated, 1I
- OMIM
- 125660
- Clinvar variants
- Variants in DES
- Penetrance
- None
- Panels with this gene
-
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Gastrointestinal neuromuscular disorders
- Dilated Cardiomyopathy and conduction defects
- Distal myopathies
- Dilated and arrhythmogenic cardiomyopathy
- Palmoplantar keratoderma and erythrokeratodermas
- Paediatric or syndromic cardiomyopathy
- Progressive cardiac conduction disease
- Ichthyosis and erythrokeratoderma
- Arthrogryposis
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Arrhythmogenic right ventricular cardiomyopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
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: DES was added gene: DES was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DES were set to Striate keratoderma with woolly hair; Cardiomyopathy, dilated, 1I