| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dilated Cardiomyopathy v0.77 | EMD | Zornitza Stark Marked gene: EMD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.77 | EMD | Zornitza Stark Gene: emd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.77 | EMD | Zornitza Stark Classified gene: EMD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.77 | EMD | Zornitza Stark Gene: emd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.75 | EMD |
Paul De Fazio gene: EMD was added gene: EMD was added to Dilated Cardiomyopathy. Sources: Literature 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 24997722 Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300 Review for gene: EMD was set to AMBER gene: EMD was marked as current diagnostic Added comment: Associated with Emery-Dreifuss muscular dystrophy. DCM can be a feature. Can find no evidence of isolated DCM. 1 Chinese family was reported with a frameshift variant in EMD who initially presented with only DCM, but were found to also have very mild skeletal muscle degeneration once the variant was discovered (PMID: 24997722). After discussion with ZS Emery-Dreifuss can be difficult to diagnose, therefore this gene belongs on this panel. Sources: Literature |
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