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Dilated and arrhythmogenic cardiomyopathy v1.3 | DMD | Sarah Leigh Tag Skewed X-inactivation tag was added to gene: DMD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated and arrhythmogenic cardiomyopathy v0.52 | DMD | Ivone Leong reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated and arrhythmogenic cardiomyopathy v0.51 | DMD |
Ivone Leong Source Expert Review Green was added to DMD. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Dilated and arrhythmogenic cardiomyopathy v0.48 | DMD | Ellen McDonagh Classified gene: DMD as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated and arrhythmogenic cardiomyopathy v0.48 | DMD | Ellen McDonagh Gene: dmd has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated and arrhythmogenic cardiomyopathy v0.46 | DMD | Ivone Leong 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated and arrhythmogenic cardiomyopathy v0.44 | DMD |
Matthew Edwards 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 Added comment: 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, Literature |