Activity

Filter

Cancel
Date Panel Item Activity
15 actions
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)
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