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
-
- Acute rhabdomyolysis
- Intellectual disability
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Monogenic hearing loss
- COVID-19 research
- Gastrointestinal neuromuscular disorders
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Distal myopathies
- Rhabdomyolysis and metabolic muscle disorders
- Retinal disorders
- Hereditary neuropathy or pain disorder
- Duchenne or Becker muscular dystrophy
- Hereditary neuropathy
- Fetal anomalies
- Arthrogryposis
- Congenital muscular dystrophy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
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