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| Cardiomyopathy_Paediatric v1.231 | DMD | Zornitza Stark Marked gene: DMD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.231 | DMD | Zornitza Stark Gene: dmd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.231 | DMD | Zornitza Stark Phenotypes for gene: DMD were changed from Duchenne muscular dystrophy, 310200; Cardiomyopathy, dilated, 3B; Dilated Cardiomyopathy, X-Linked; Becker muscular dystrophy, 300376 to Becker muscular dystrophy, MIM:300376; Cardiomyopathy, dilated, 3B, MIM:302045; Duchenne muscular dystrophy, MIM: 310200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.230 | DMD | Zornitza Stark Publications for gene: DMD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.167 | DMD |
Richard Lin changed review comment from: Dystrophin gene mutations are associated with X-linked progressive muscular dystrophy, including Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD). Cardiomyopathy is a feature of the disease, and results from dystrophin deficiency in the heart (PMID: 29395990). The age of onset of cardiomyopathy is reported to be in the mid teens in boys with DMD, with a range of onset from 10-21 years (PMID: 16246949, 27230049). Children with very large deletions or following an episode of viral myocarditis have been reported to develop earlier onset LV dysfunction (PMID: 36252992). A proportion of female dystrophinopathy carriers are also at risk of cardiomyopathy with or without skeletal muscle disease (PMID: 29395990), though there are limited reports of paediatric onset cardiomyopathy. Dilated cardiomyopathy was diagnosed in 1 out of 24 female carriers of DCM aged between 5 and 15 years. In a cohort study, cardiac hypertrophy was diagnosed in 2 out of 24 female DMD carriers, and 2 out of 9 BMD carriers (PMID: 8614119).; to: Dystrophin gene mutations are associated with X-linked progressive muscular dystrophy, including Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD). Cardiomyopathy is a feature of the disease, and results from dystrophin deficiency in the heart (PMID: 29395990). The age of onset of cardiomyopathy is reported to be in the mid teens in boys with DMD, with a range of onset from 10-21 years (PMID: 16246949, 27230049). Children with very large deletions or following an episode of viral myocarditis have been reported to develop earlier onset LV dysfunction (PMID: 36252992). A proportion of female dystrophinopathy carriers are also at risk of cardiomyopathy with or without skeletal muscle disease (PMID: 29395990), though there are limited reports of paediatric onset cardiomyopathy. In a cohort study, dilated cardiomyopathy was diagnosed in 1 out of 24 female carriers of DCM aged between 5 and 15 years. Cardiac hypertrophy was diagnosed in 2 out of 24 female DMD carriers, and 2 out of 9 BMD carriers in the same cohort (PMID: 8614119). |
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| Cardiomyopathy_Paediatric v1.167 | DMD | Richard Lin reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 8614119, 16246949, 27230049, 29395990, 36252992; Phenotypes: Becker muscular dystrophy, MIM:300376, Cardiomyopathy, dilated, 3B, MIM:302045, Duchenne muscular dystrophy, MIM: 310200; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.0 | DMD | Gene migrated from ENSG00000198947 to ENSG00000198947 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.0 | DMD |
Zornitza Stark gene: DMD was added gene: DMD was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,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; Cardiomyopathy, dilated, 3B; Dilated Cardiomyopathy, X-Linked; Becker muscular dystrophy, 300376 |
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