Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Dilated Cardiomyopathy and conduction defects v1.55 RBM20 Rebecca Whittington commented on gene: RBM20: Cardiomyopathy, dilated, 1DD OMIM#613172
Dilated Cardiomyopathy and conduction defects v1.54 RBM20 Rebecca Whittington commented on gene: RBM20: Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 2% of DCM patients) and Pugh (2014) Genet Med 16, 601 - mainly in paediatric cases. Also see Wells Circ Cardiovasc Genet. 2013 August ; 6(4): 317326 and Refaat Heart Rhythm. 2012 March ; 9(3): 390396.
Dilated Cardiomyopathy and conduction defects v1.53 RBM20 Rebecca Whittington reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.47 RBM20 Ellen McDonagh Source South West GLH was added to RBM20.
Mode of inheritance for gene RBM20 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.46 RBM20 Ellen McDonagh reviewed gene: RBM20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.45 RBM20 Ellen McDonagh Source London South GLH was added to RBM20.
Dilated Cardiomyopathy and conduction defects v1.44 RBM20 James Eden reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: ; Publications: 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1DD (613172); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.43 RBM20 Ellen McDonagh Source North West GLH was added to RBM20.
Added phenotypes Cardiomyopathy, dilated, 1DD (613172) for gene: RBM20
Publications for gene RBM20 were changed from to 27532257; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)