Distal myopathies
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
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: does not cause a distal myopathy phenotypeeCreated: 20 Feb 2017, 3:56 p.m.
Details
- Sources
-
- Expert Review Red
- Eligibility statement prior genetic testing
- Tags
- OMIM
- 300377
- Clinvar variants
- Variants in DMD
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Intellectual disability
- DDG2P
- Retinal disorders
- COVID-19 research
- Gastrointestinal neuromuscular disorders
- Dilated Cardiomyopathy and conduction defects
- Distal myopathies
- Dilated and arrhythmogenic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Acute rhabdomyolysis
- Rhabdomyolysis and metabolic muscle disorders
- Arthrogryposis
- Duchenne or Becker muscular dystrophy
- Monogenic hearing loss
- Fetal anomalies
- Congenital muscular dystrophy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
History Filter Activity
2 Jun 2020, Gel status: 1
Added Tag
Sarah Leigh (Genomics England Curator)Tag Skewed X-inactivation tag was added to gene: DMD.
22 Feb 2017, Gel status: 1
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.
20 Feb 2017, Gel status: 1
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
20 Feb 2017, Gel status: 1
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
12 Aug 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)DMD was added to Distal myopathiespanel. Sources: Eligibility statement prior genetic testing