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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 |
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Hypertrophic cardiomyopathy | ATP5E | Louise Daugherty commented on ATP5E |