| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dilated Cardiomyopathy v1.59 | EMD | Zornitza Stark Publications for gene: EMD were set to 24997722 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.58 | EMD | Zornitza Stark edited their review of gene: EMD: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.58 | EMD | Zornitza Stark Classified gene: EMD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.58 | EMD | Zornitza Stark Gene: emd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.57 | EMD | Zornitza Stark changed review comment from: Multiple reports of isolated DCM, including pedigrees with extensive segregation. The p.Val26Ala variant is reported in multiple individuals.; to: Multiple reports of isolated DCM, including pedigrees with extensive segregation. The p.Val26Ala variant is reported in multiple individuals from the Canary Islands ?founder. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.57 | EMD | Zornitza Stark reviewed gene: EMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 18266676, 24997722, 32755394, 38337354, 40065010; Phenotypes: Cardiomyopathy, dilated, 3C, MIM# 301163; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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