Arthrogryposis
Gene: DMDEnsemblGeneIds (GRCh38): ENSG00000198947
EnsemblGeneIds (GRCh37): ENSG00000198947
OMIM: 300377, Gene2Phenotype
DMD is in 19 panels
2 reviews
Alice Gardham (Genomics England)
Comment on list classification: Known to cause muscular dystrophy but no association with arthrogryposisCreated: 4 Jan 2017, 10:35 a.m.
Emma Clement (Great Ormond Street Hospital)
Phenotypes
Duchenne muscular dystrophy, 310200Becker muscular dystrophy, 300376Cardiomyopathy, dilated, 3B, 302045; Duchenne or Becker muscular dystrophy
Details
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Expert list
- Phenotypes
-
- Duchenne muscular dystrophy, 310200Becker muscular dystrophy, 300376Cardiomyopathy, dilated, 3B, 302045
- Duchenne or Becker muscular dystrophy
- 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 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)DMD was added to Arthrogryposispanel. Source: UKGTN DMD was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen DMD was added to Arthrogryposispanel. Source: Emory Genetics Laboratory DMD was added to Arthrogryposispanel. Source:
Added New Source
Ellen McDonagh (Genomics England Curator)DMD was added to Arthrogryposispanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)DMD was created by ellenmcdonagh