Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
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, 9:36 a.m.
Listed as associated with Limb Girdle Muscular Dystrophy by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 8:22 a.m.
Comment on list classification: Important differential with young onset disease.Created: 29 May 2016, 7:25 p.m.
Tag Skewed X-inactivation tag was added to gene: DMD.
Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.
Phenotypes for DMD were set to Duchenne muscular dystrophy 310200; Becker muscular dystrophy 300376
This gene has been classified as Green List (High Evidence).
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)
This gene has been classified as Green List (High Evidence).
DMD was added to Limb girdle muscular dystrophypanel. Sources: Eligibility statement prior genetic testing