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Duchenne or Becker muscular dystrophy
Gene: DMD
DMD (dystrophin)
EnsemblGeneIds (GRCh38): ENSG00000198947
EnsemblGeneIds (GRCh37): ENSG00000198947
OMIM: 300377, Gene2Phenotype
DMD is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000198947
EnsemblGeneIds (GRCh37): ENSG00000198947
OMIM: 300377, Gene2Phenotype
DMD is in 19 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #310200 & #300376) and the OMIM records were last accessed on 17 December 2025.Created: 17 Dec 2025, 11:43 p.m. | Last Modified: 17 Dec 2025, 11:43 p.m.
Panel Version: 1.2
DMD has been added to the panel for R73 Duchenne or Becker muscular dystrophy with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 11:56 a.m. | Last Modified: 30 Jun 2023, 11:56 a.m.
Panel Version: 0.1
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Duchenne muscular dystrophy, OMIM:310200
- Becker muscular dystrophy, OMIM:300376
- Duchenne muscular dystrophy, MONDO:0010679
- Becker muscular dystrophy, MONDO:0010311
- OMIM
- 300377
- Clinvar variants
- Variants in DMD
- Penetrance
- None
- Panels with this gene
-
- Rhabdomyolysis and metabolic muscle disorders
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Gastrointestinal neuromuscular disorders
- Dilated Cardiomyopathy and conduction defects
- Intellectual disability
- Distal myopathies
- COVID-19 research
- Retinal disorders
- Acute rhabdomyolysis
- Duchenne or Becker muscular dystrophy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Congenital muscular dystrophy
History Filter Activity
17 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: DMD were changed from to Duchenne muscular dystrophy, OMIM:310200; Becker muscular dystrophy, OMIM:300376; Duchenne muscular dystrophy, MONDO:0010679; Becker muscular dystrophy, MONDO:0010311
29 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: DMD was added gene: DMD was added to Duchenne or Becker muscular dystrophy. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females