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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 |
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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. |