Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: DMDEnsemblGeneIds (GRCh38): ENSG00000198947
EnsemblGeneIds (GRCh37): ENSG00000198947
OMIM: 300377, Gene2Phenotype
DMD is in 19 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Added the tag ‘gene-therapy-trial’ as this gene-disease is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412Created: 14 May 2018, 9:36 a.m.
Sarah Leigh (Genomics England Curator)
Listed as associated with Limb Girdle Muscular Dystrophy by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 8:22 a.m.
Ellen Thomas (Genomics England Curator)
Comment on list classification: Important differential with young onset disease.Created: 29 May 2016, 7:25 p.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Phenotypes
-
- Duchenne muscular dystrophy 310200
- Becker muscular dystrophy 300376
- Tags
- OMIM
- 300377
- Clinvar variants
- Variants in DMD
- Penetrance
- Complete
- Panels with this gene
-
- Monogenic hearing loss
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- COVID-19 research
- Gastrointestinal neuromuscular disorders
- Dilated Cardiomyopathy and conduction defects
- Distal myopathies
- Arthrogryposis
- Dilated and arrhythmogenic cardiomyopathy
- Retinal disorders
- Paediatric or syndromic cardiomyopathy
- Rhabdomyolysis and metabolic muscle disorders
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Duchenne or Becker muscular dystrophy
- Fetal anomalies
- DDG2P
- Hereditary neuropathy
- Acute rhabdomyolysis
- Congenital muscular dystrophy
History Filter Activity
Added Tag
Sarah Leigh (Genomics England Curator)Tag Skewed X-inactivation tag was added to gene: DMD.
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for DMD were set to Duchenne muscular dystrophy 310200; Becker muscular dystrophy 300376
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for DMD was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)DMD was added to Limb girdle muscular dystrophypanel. Sources: Eligibility statement prior genetic testing