Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Dilated Cardiomyopathy and conduction defects v1.55 PKP2 Rebecca Whittington commented on gene: PKP2: Arrhythmogenic right ventricular dysplasia 9 OMIM#609040
Dilated Cardiomyopathy and conduction defects v1.54 PKP2 Rebecca Whittington commented on gene: PKP2: HGMD: 8 variants assoc with DCM all ?DM, 6 reported by Walsh, 1 x Dal Ferro and 1 x Elliot 2010: This variant p.Ser140Phe was detected in three unrelated DCM patients. No family studies.
Dilated Cardiomyopathy and conduction defects v1.53 PKP2 Rebecca Whittington reviewed gene: PKP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.47 PKP2 Ellen McDonagh Source South West GLH was added to PKP2.
Mode of inheritance for gene PKP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.46 PKP2 Ellen McDonagh reviewed gene: PKP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.45 PKP2 Ellen McDonagh Source London South GLH was added to PKP2.