Gastrointestinal neuromuscular disorders

Gene: DMD

Green List (high evidence)

DMD (dystrophin)
EnsemblGeneIds (GRCh38): ENSG00000198947
EnsemblGeneIds (GRCh37): ENSG00000198947
OMIM: 300377, Gene2Phenotype
DMD is in 14 panels

4 reviews

Richard Scott (Genomics England Curator)

Comment on list classification: Can present with pseudo-obstruction PMID 3380114 although infrequent initial presentation
25 Oct 2016, 3:49 p.m.

Ellen McDonagh (Genomics England Curator)

I don't know

Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412
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.
19 Oct 2016, 10:39 a.m.

Neil shah (GOSH)

Green List (high evidence)

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)

Red List (low evidence)

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)
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
gene-therapy-trial
OMIM
300377
Clinvar variants
Variants in DMD
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 4

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.

25 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Oct 2016, Gel status: 0

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)

31 Aug 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

DMD was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Literature

31 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

DMD was created by sleigh