Congenital myopathy
Gene: DES
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, myofibrillar, 1, 601419; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400
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
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
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.
This gene has been classified as Red List (Low Evidence).
Phenotypes for DES were set to Myopathy, myofibrillar, 1, 601419; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400
Mode of inheritance for DES was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
DES was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services
DES was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
DES was added to Congenital myopathypanel. Sources: Emory Genetics Laboratory