Acute rhabdomyolysis
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
Arina Puzriakova (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 16 Feb 2022, 2:31 p.m. | Last Modified: 16 Feb 2022, 2:31 p.m.
Panel Version: 0.6
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Becker muscular dystrophy, OMIM:300376
- Exercise induced cramps and myoglobinuria
- OMIM
- 300377
- Clinvar variants
- Variants in DMD
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Rhabdomyolysis and metabolic muscle disorders
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
- Retinal disorders
- DDG2P
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Gastrointestinal neuromuscular disorders
- Dilated Cardiomyopathy and conduction defects
- Distal myopathies
- COVID-19 research
- Acute rhabdomyolysis
- Duchenne or Becker muscular dystrophy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Congenital muscular dystrophy
History Filter Activity
25 Oct 2024, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: DMD were changed from Becker muscular dystrophy, OMIM:300376; Exercise induced crams and myoglobinuria to Becker muscular dystrophy, OMIM:300376; Exercise induced cramps and myoglobinuria
19 Jan 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: DMD was added gene: DMD was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: DMD were set to 1822795; 19396825 Phenotypes for gene: DMD were set to Becker muscular dystrophy, OMIM:300376; Exercise induced crams and myoglobinuria