Dilated and arrhythmogenic cardiomyopathy
Gene: DMD
Submitted on behalf of the GMS Cardiology specialist group. Promoted from Red to Green as the group has agreed that this gene should be Green on this panel.Created: 3 Dec 2019, 2:28 p.m. | Last Modified: 3 Dec 2019, 2:28 p.m.
Panel Version: 0.52
On CGGL Royal Brompton DCM panel. Pathogenic variants detected in isolated DCM cases and BMD cases (wher DCM part of clinical picture)
Sources: NHS GMS, LiteratureCreated: 19 Sep 2019, 11:02 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
OMIM: 300376 Becker muscular dystrophy; 302045 Cardiomyopathy, dilated, 3B; 310200 Duchenne muscular dystrophy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Skewed X-inactivation tag was added to gene: DMD.
Source Expert Review Green was added to DMD. Rating Changed from Red List (low evidence) to Green List (high evidence)
Gene: dmd has been classified as Red List (Low Evidence).
Phenotypes for gene: DMD were changed from OMIM: 300376 Becker muscular dystrophy; 302045 Cardiomyopathy, dilated, 3B; 310200 Duchenne muscular dystrophy to Becker muscular dystrophy, 300376; Cardiomyopathy, dilated, 3B, 302045; Duchenne muscular dystrophy, 310200
gene: DMD was added gene: DMD was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Literature Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: DMD were set to GeneReviews: Dystrophinopathies Phenotypes for gene: DMD were set to OMIM: 300376 Becker muscular dystrophy; 302045 Cardiomyopathy, dilated, 3B; 310200 Duchenne muscular dystrophy Review for gene: DMD was set to GREEN gene: DMD was marked as current diagnostic