Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Hypertrophic cardiomyopathy v1.53 ANKRD1 Rebecca Whittington commented on gene: ANKRD1: Glycogen storage disease IIIa&b
Hypertrophic cardiomyopathy v1.52 ANKRD1 Rebecca Whittington commented on gene: ANKRD1: No OMIM phenotype associated. 3 DM variants reported to HGMD associated with HCM, all reclassified - 1 LB and 2 VUS based on functional studies. 23299917: overrepresentation of previously cardiomyopathy-associated genetic variants in population-based exome data. Insufficient evidence to include.
Hypertrophic cardiomyopathy v1.51 ANKRD1 Rebecca Whittington reviewed gene: ANKRD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.45 ANKRD1 Ellen McDonagh Source South West GLH was added to ANKRD1.
Mode of inheritance for gene ANKRD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.44 ANKRD1 Ellen McDonagh reviewed gene: ANKRD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.43 ANKRD1 Ellen McDonagh Source London South GLH was added to ANKRD1.