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Hypertrophic cardiomyopathy v1.53 ATP5E Rebecca Whittington commented on gene: ATP5E: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 (614053)
Hypertrophic cardiomyopathy v1.52 ATP5E Rebecca Whittington commented on gene: ATP5E: Not listed on HGMD, OMIM: 1 nonsense variant and associated with mitochondrial disease, patient has HCM: Mayr Hum Mol Genet. 2010 Sep 1;19(17):3430-9. doi: 10.1093/hmg/ddq254. Epub 2010 Jun 21.
Hypertrophic cardiomyopathy v1.51 ATP5E Rebecca Whittington reviewed gene: ATP5E: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.45 ATP5E Ellen McDonagh Source South West GLH was added to ATP5E.
Mode of inheritance for gene ATP5E was changed from to Unknown
Hypertrophic cardiomyopathy ATP5E Louise Daugherty commented on ATP5E