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Progressive cardiac conduction disease v1.9 | EMD | Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Emery-Dreifuss muscular dystrophy 1, X-linked OMIM:310300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Progressive cardiac conduction disease v1.9 | EMD | Ivone Leong Phenotypes for gene: EMD were changed from Emery-Dreifuss muscular dystrophy 1, X-linked OMIM:310300 to Heart conduction disease, MONDO:0000992 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Progressive cardiac conduction disease v1.8 | EMD | Ivone Leong Phenotypes for gene: EMD were changed from Emery-Dreifuss muscular dystrophy 1, X-linked 310300 to Emery-Dreifuss muscular dystrophy 1, X-linked OMIM:310300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Progressive cardiac conduction disease v0.47 | EMD |
Ivone Leong Source Expert Review Green was added to EMD. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Progressive cardiac conduction disease v0.46 | EMD | Kate Thomson reviewed gene: EMD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Progressive cardiac conduction disease v0.32 | EMD | Ivone Leong Phenotypes for gene: EMD were changed from to Emery-Dreifuss muscular dystrophy 1, X-linked 310300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Progressive cardiac conduction disease v0.31 | EMD | Ivone Leong Publications for gene: EMD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Progressive cardiac conduction disease v0.30 | EMD | Ivone Leong reviewed gene: EMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Progressive cardiac conduction disease v0.28 | EMD | James Eden reviewed gene: EMD: Rating: AMBER; Mode of pathogenicity: None; Publications: 29349559; Phenotypes: Emery-Dreifuss muscular dystrophy 1, X-linked 310300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Progressive cardiac conduction disease v0.23 | EMD | Ivone Leong Classified gene: EMD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Progressive cardiac conduction disease v0.23 | EMD | Ivone Leong Gene: emd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Progressive cardiac conduction disease v0.18 | EMD | Rebecca Whittington commented on gene: EMD: Emery-Dreifuss muscular dystrophy 1, X-linked (OMIM 310300) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Progressive cardiac conduction disease v0.17 | EMD | Rebecca Whittington commented on gene: EMD: As with LMNA - reports of individuals with a EMD variant who had a conduction defect as an isolated finding at presentation. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Progressive cardiac conduction disease v0.16 | EMD | Rebecca Whittington reviewed gene: EMD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Progressive cardiac conduction disease v0.15 | EMD |
Ellen McDonagh gene: EMD was added gene: EMD was added to Progressive cardiac conduction disease. Sources: South West GLH Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females |