Retinal disorders
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
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.
Panel Version: 2.5
Details
- Sources
-
- NHS GMS
- RetNet
- Expert Review Amber
- Tags
- OMIM
- 300377
- Clinvar variants
- Variants in DMD
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Paediatric or syndromic cardiomyopathy
- COVID-19 research
- Gastrointestinal neuromuscular disorders
- Dilated Cardiomyopathy and conduction defects
- Retinal disorders
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Rhabdomyolysis and metabolic muscle disorders
- Duchenne or Becker muscular dystrophy
- Arthrogryposis
- Monogenic hearing loss
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Distal myopathies
- DDG2P
- Fetal anomalies
- Acute rhabdomyolysis
- Dilated and arrhythmogenic cardiomyopathy
- Congenital muscular dystrophy
History Filter Activity
2 Jun 2020, Gel status: 2
Added Tag
Sarah Leigh (Genomics England Curator)Tag Skewed X-inactivation tag was added to gene: DMD.
27 Dec 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: DMD was added gene: DMD was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: DMD was set to