Gastrointestinal neuromuscular disorders
Gene: DESEnsemblGeneIds (GRCh38): ENSG00000175084
EnsemblGeneIds (GRCh37): ENSG00000175084
OMIM: 125660, Gene2Phenotype
DES is in 15 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Green expert review, and tests diagnostically. >7 cases/family reports in OMIM for Myopathy, myofibrillar, 1. Different variants reported.Created: 19 Oct 2016, 8:45 a.m.
Neil shah (GOSH)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Myopathy, myofibrillar, 1 601419
- 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
- Progressive cardiac conduction disease
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Arrhythmogenic right ventricular cardiomyopathy
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for DES were set to Myopathy, myofibrillar, 1 601419
Added New Source
Sarah Leigh (Genomics England Curator)DES was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Emory Genetics Laboratory
Added New Source
Sarah Leigh (Genomics England Curator)DES was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Sarah Leigh (Genomics England Curator)DES was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
Created
Sarah Leigh (Genomics England Curator)DES was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)DES was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: UKGTN