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
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- 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
-
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: DES were changed from Myopathy, myofibrillar, 1, 601419; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 to Myopathy, myofibrillar, 1, OMIM:601419; Scapuloperoneal syndrome, neurogenic, Kaeser type, OMIM:181400
panel promoted to version 1
Helen Brittain (Genomics England Curator)Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for DES were set to Myopathy, myofibrillar, 1, 601419; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for DES was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
GEL ()DES was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()DES was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()DES was added to Congenital myopathypanel. Sources: Emory Genetics Laboratory