Hypertrophic cardiomyopathy - teen and adultGene: ATP5E
?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 (614053)
Created: 25 Mar 2019, 4:30 p.m.
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.
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
Added new-gene-name tag, new approved HGNC gene symbol is ATP5F1E
Created: 21 Mar 2018, 12:49 p.m.
Source South West GLH was added to ATP5E. Mode of inheritance for gene ATP5E was changed from to Unknown
ATP5E was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list