Arthrogryposis
Gene: DESEnsemblGeneIds (GRCh38): ENSG00000175084
EnsemblGeneIds (GRCh37): ENSG00000175084
OMIM: 125660, Gene2Phenotype
DES is in 15 panels
1 review
Alice Gardham (Genomics England)
Comment on list classification: No clear association with arthrogryposisCreated: 4 Jan 2017, 10:57 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- myofibrillar myopathy
- Myopathy, myofibrillar, 1, 601419Cardiomyopathy, dilated, 1I, 604765Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400?Muscular dystrophy, limb-girdle, type 2R, 615325
- Myofibrillar Myopathy, Dominant
- 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
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)DES was added to Arthrogryposispanel. Source: Emory Genetics Laboratory DES was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen DES was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene DES was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Created
Ellen McDonagh (Genomics England Curator)DES was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)DES was added to Arthrogryposispanel. Sources: Expert list