Gastrointestinal neuromuscular disorders
Gene: DMDComment on list classification: Can present with pseudo-obstruction PMID 3380114 although infrequent initial presentationCreated: 25 Oct 2016, 3:49 p.m.
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.
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
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
Tag Skewed X-inactivation tag was added to gene: DMD.
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.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for DMD were set to 3380114; 26920808 - dystrophin deficient mice display GI disease symptoms; 7999513 (article in Spanish)
DMD was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Literature
DMD was created by sleigh