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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.120 | DMD | Bryony Thompson Marked gene: DMD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.120 | DMD | Bryony Thompson Gene: dmd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.120 | DMD | Bryony Thompson Publications for gene: DMD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 | LMNA |
Crystle Lee gene: LMNA was added gene: LMNA was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LMNA were set to 27220833; 23746545; 17377071 Phenotypes for gene: LMNA were set to Emery-Dreifuss muscular dystrophy 2, autosomal dominant (MIM#181350) Mode of pathogenicity for gene: LMNA was set to Other Review for gene: LMNA was set to AMBER Added comment: Phenotypic overlap, Formerly known as Limb-girdle muscular dystrophy 1B (LGMD1B) but has been reclassified as EDMD (OMIM) PMID: 27220833: 1 late onset patient with LGMD PMID: 23746545: Late onset patient with severe LGMD PMID: 17377071: Later onset phenotypes may be associated with LoF while dominant negative variants result in childhood onset disease Sources: Expert Review |
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 | DMD |
Bryony Thompson gene: DMD was added gene: DMD was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green 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) Phenotypes for gene: DMD were set to Duchenne muscular dystrophy 310200; Becker muscular dystrophy 300376 |
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