Congenital muscular dystrophy and congenital myopathy
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
-
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- NHS GMS
- 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
-
- 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
Created, Added New Source, Added Tag, Set mode of inheritance, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: DMD was added gene: DMD was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,UKGTN,Emory Genetics Laboratory,Expert Review Green,Radboud University Medical Center, Nijmegen gene-therapy-trial, Skewed X-inactivation tags were added to gene: DMD. Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DMD were set to Becker muscular dystrophy, OMIM:300376; Duchenne muscular dystrophy, OMIM:310200 Penetrance for gene: DMD were set to Complete