| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v0.38 | EMD | Zornitza Stark Marked gene: EMD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.38 | EMD | Zornitza Stark Gene: emd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.38 | EMD | Zornitza Stark Classified gene: EMD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.38 | EMD | Zornitza Stark Gene: emd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.27 | EMD |
Elena Savva gene: EMD was added gene: EMD was added to Muscular dystrophy. Sources: Expert list Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: EMD were set to PMID: 21697856; 31802929 Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked 310300 Review for gene: EMD was set to GREEN Added comment: PMID: 21697856 - 21 male patients with EM muscular dystrophy. Age of onset not well reported, only age at diagnosis. Youngest patient was 5 days old but asymptomatic, eldest was 55 years. Of those with age of onset reported, 3 had progressive muscle weakness onset from neonatal-5 years. PMID: 31802929 - 1 family (9 affected males) with elevated CK levels and mild skeletal muscular dystrophy. Youngest affected was 7 years old PMID: 31645980 - 1 patient with difficulty moving his limb girdle and cervical vertebrae from 5 years old. Summary: childhood onset reported Sources: Expert list |
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