Limb girdle muscular dystrophy

Gene: DMD

Green List (high evidence)

DMD (dystrophin)
EnsemblGeneIds (GRCh38): ENSG00000198947
EnsemblGeneIds (GRCh37): ENSG00000198947
OMIM: 300377, Gene2Phenotype
DMD is in 18 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Added the tag ‘gene-therapy-trial’ as this gene-disease is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412
Created: 14 May 2018, 9:36 a.m.

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Listed as associated with Limb Girdle Muscular Dystrophy by Gene Advisor (June 2016), Steve Abbs
Created: 27 Jul 2016, 8:22 a.m.

Ellen Thomas (Genomics England Curator)

Comment on list classification: Important differential with young onset disease.
Created: 29 May 2016, 7:25 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Duchenne muscular dystrophy 310200
  • Becker muscular dystrophy 300376
Tags
gene-therapy-trial
OMIM
300377
Clinvar variants
Variants in DMD
Penetrance
Complete
Panels with this gene

History Filter Activity

27 Jul 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.

30 Jun 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for DMD were set to Duchenne muscular dystrophy 310200; Becker muscular dystrophy 300376

29 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

29 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for DMD was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

29 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

12 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DMD was added to Limb girdle muscular dystrophypanel. Sources: Eligibility statement prior genetic testing