Gastrointestinal neuromuscular disorders
Gene: DMDEnsemblGeneIds (GRCh38): ENSG00000198947
EnsemblGeneIds (GRCh37): ENSG00000198947
OMIM: 300377, Gene2Phenotype
DMD is in 19 panels
4 reviews
Richard Scott (Genomics England Curator)
Comment on list classification: Can present with pseudo-obstruction PMID 3380114 although infrequent initial presentationCreated: 25 Oct 2016, 3:49 p.m.
Ellen McDonagh (Genomics England Curator)
Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412Created: 14 May 2018, 9:35 a.m.
Comment on list classification: Gene clearly implicated in Duchenne muscular dystrophy - though I am unsure whether all patients display pseudo-obstruction and whether this gene should therefore be included on this panel.Created: 19 Oct 2016, 10:39 a.m.
Neil shah (GOSH)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications
Variants in this GENE are reported as part of current diagnostic practice
Sarah Leigh (Genomics England Curator)
One report of functional impairment of smooth muscle in the gastrointestinal tract can cause acute gastric dilatation and intestinal pseudo-obstruction that may be fatal (PMID 3380114)Created: 31 Aug 2016, 1:27 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Duchenne muscular dystrophy 310200
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Duchenne muscular dystrophy 310200
- Tags
- OMIM
- 300377
- Clinvar variants
- Variants in DMD
- Penetrance
- Complete
- 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
- Hereditary neuropathy or pain disorder
- Duchenne or Becker muscular dystrophy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Fetal anomalies
- 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 1
Ellen McDonagh (Genomics England Curator)26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for DMD were set to 3380114; 26920808 - dystrophin deficient mice display GI disease symptoms; 7999513 (article in Spanish)
Added New Source
Sarah Leigh (Genomics England Curator)DMD was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Literature
Created
Sarah Leigh (Genomics England Curator)DMD was created by sleigh