Congenital muscular dystrophy
Gene: DMDAdded the tag ‘gene-therapy-trial’ as this gene-disease is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412Created: 14 May 2018, 9:35 a.m.
Comment when marking as ready: Expert review green, confirmed DD gene and >3 cases reported.Created: 11 Jan 2017, 12:23 p.m.
Comment on mode of inheritance: Hemizygous in Gene2Phenotype.Created: 11 Jan 2017, 12:21 p.m.
Phenotypes
Duchenne muscular dystrophy, 310200Becker muscular dystrophy, 300376Cardiomyopathy, dilated, 3B, 302045; Duchenne or Becker muscular dystrophy
Phenotypes for gene: DMD were changed from Duchenne muscular dystrophy, 310200; Becker muscular dystrophy, 300376 to Becker muscular dystrophy, OMIM:300376; Duchenne muscular dystrophy, OMIM:310200
Tag Skewed X-inactivation tag was added to gene: DMD.
Source was removed from DMD. Source NHS GMS was added to DMD.
27.01.2017 Panel revised after expert review and internal review with further curation.
This gene has been classified as Green List (High Evidence).
Phenotypes for DMD were set to Duchenne muscular dystrophy, 310200; Becker muscular dystrophy, 300376
Mode of inheritance for DMD was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
DMD was added to Congenital muscular dystrophypanel. Source:
DMD was added to Congenital muscular dystrophypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
DMD was added to Congenital muscular dystrophypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
DMD was added to Congenital muscular dystrophypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory