Rhabdomyolysis and metabolic muscle disordersGene: DMD
Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412
Created: 14 May 2018, 9:34 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. Numerous variants reported.
Created: 2 Dec 2016, 10:54 a.m.
Comment on phenotypes: Variants also reported in Cardiomyopathy, dilated, 3B 302045;
Duchenne muscular dystrophy 310200
Created: 2 Dec 2016, 10:53 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Becker muscular dystrophy 300376
Tag Skewed X-inactivation tag was added to gene: DMD.
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
Phenotypes for DMD were set to Becker muscular dystrophy 300376
DMD was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
DMD was created by sleigh