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  3. ATP5E
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Hypertrophic cardiomyopathy

Gene: ATP5E

Red List (low evidence)
ATP5E (ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit)
EnsemblGeneIds (GRCh38): ENSG00000124172
EnsemblGeneIds (GRCh37): ENSG00000124172
OMIM: 606153, Gene2Phenotype
ATP5E is in 6 panels

3 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

?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
Unknown

Created: 25 Mar 2019, 4:24 p.m.

Panel version: 1.53

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol is ATP5F1E
Created: 21 Mar 2018, 12:49 p.m.
Created: 21 Mar 2018, 12:49 p.m.

Panel version: 1.20

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

Created: 6 Jan 2016, 5:11 p.m.

Panel version: 0.0

Details

Mode of Inheritance
Unknown
Sources
  • South West GLH
  • Expert list
Phenotypes
  • syndromic HCM
Tags
new-gene-name
OMIM
606153
Clinvar variants
Variants in ATP5E
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to ATP5E. Mode of inheritance for gene ATP5E was changed from to Unknown

13 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ATP5E was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list