Congenital muscular dystrophy and congenital myopathy
Gene: DESEnsemblGeneIds (GRCh38): ENSG00000175084
EnsemblGeneIds (GRCh37): ENSG00000175084
OMIM: 125660, Gene2Phenotype
DES is in 15 panels
2 reviews
Anna Sarkozy (Great Ormond Street Hospital)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, myofibrillar, 1, 601419; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Adult onset of symptomsCreated: 2 Feb 2017, 11:32 a.m.
Comment on mode of inheritance: mono and bi-allelic cases reportedCreated: 2 Feb 2017, 11:30 a.m.
Comment on list classification: Although causation clear, the phenotype is associated with adult onset of symptoms from the current knowledge.Created: 2 Feb 2017, 11:29 a.m.
Many affected individuals with mutations within the gene and the majority are missense. However, age of onset is variable but typically in 2nd / 3rd decade. Therefore considered red as would not be expected to cause congenital myopathy.Created: 26 Jan 2017, 10:17 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, myofibrillar, 1 601419; Scapuloperoneal syndrome, neurogenic, Kaeser type 181400
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Myopathy, myofibrillar, 1, OMIM:601419
- Scapuloperoneal syndrome, neurogenic, Kaeser type, OMIM:181400
- OMIM
- 125660
- Clinvar variants
- Variants in DES
- Penetrance
- Complete
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Gastrointestinal neuromuscular disorders
- Dilated Cardiomyopathy and conduction defects
- Distal myopathies
- Arthrogryposis
- Dilated and arrhythmogenic cardiomyopathy
- Palmoplantar keratoderma and erythrokeratodermas
- Paediatric or syndromic cardiomyopathy
- Ichthyosis and erythrokeratoderma
- Progressive cardiac conduction disease
- Hereditary neuropathy or pain disorder
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Hereditary neuropathy
- Arrhythmogenic right ventricular cardiomyopathy
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: DES was added gene: DES was added to Congenital muscular dystrophy and congenital myopathy. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert Review Red Mode of inheritance for gene: DES was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DES were set to Myopathy, myofibrillar, 1, OMIM:601419; Scapuloperoneal syndrome, neurogenic, Kaeser type, OMIM:181400 Penetrance for gene: DES were set to Complete