Congenital muscular dystrophy
Gene: DMDEnsemblGeneIds (GRCh38): ENSG00000198947
EnsemblGeneIds (GRCh37): ENSG00000198947
OMIM: 300377, Gene2Phenotype
DMD is in 19 panels
2 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, 9:35 a.m.
Comment when marking as ready: Expert review green, confirmed DD gene and >3 cases reported.Created: 11 Jan 2017, 12:23 p.m.
Comment on mode of inheritance: Hemizygous in Gene2Phenotype.Created: 11 Jan 2017, 12:21 p.m.
Emma Clement (Great Ormond Street Hospital)
Phenotypes
Duchenne muscular dystrophy, 310200Becker muscular dystrophy, 300376Cardiomyopathy, dilated, 3B, 302045; Duchenne or Becker muscular dystrophy
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- NHS GMS
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Becker muscular dystrophy, OMIM:300376
- Duchenne muscular dystrophy, OMIM:310200
- Tags
- OMIM
- 300377
- Clinvar variants
- Variants in DMD
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Rhabdomyolysis and metabolic muscle disorders
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
- Retinal disorders
- DDG2P
- Fetal anomalies
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Gastrointestinal neuromuscular disorders
- Dilated Cardiomyopathy and conduction defects
- Distal myopathies
- COVID-19 research
- Acute rhabdomyolysis
- Hereditary neuropathy or pain disorder
- Duchenne or Becker muscular dystrophy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Congenital muscular dystrophy
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: DMD were changed from Duchenne muscular dystrophy, 310200; Becker muscular dystrophy, 300376 to Becker muscular dystrophy, OMIM:300376; Duchenne muscular dystrophy, OMIM:310200
Added Tag
Sarah Leigh (Genomics England Curator)Tag Skewed X-inactivation tag was added to gene: DMD.
Removed Source, Added New Source
Louise Daugherty (Genomics England Curator)Source was removed from DMD. Source NHS GMS was added to DMD.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27.01.2017 Panel revised after expert review and internal review with further curation.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for DMD were set to Duchenne muscular dystrophy, 310200; Becker muscular dystrophy, 300376
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for DMD was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)DMD was added to Congenital muscular dystrophypanel. Source:
Added New Source
Ellen McDonagh (Genomics England Curator)DMD was added to Congenital muscular dystrophypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)DMD was added to Congenital muscular dystrophypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)DMD was added to Congenital muscular dystrophypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory