Mitochondrial disorders

Gene: ATP5O

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 11 Oct 2023, 9:52 a.m. | Last Modified: 11 Oct 2023, 9:52 a.m.

Panel Version: 4.95

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

Comment on list classification: There are now sufficient unrelated cases reported (3) to promote this gene to Green at the next GMS panel update.

Created: 13 Apr 2023, 10:53 a.m. | Last Modified: 13 Apr 2023, 10:53 a.m.

Panel Version: 4.4

At least four individuals from three unrelated families now reported with biallelic variants in this gene (PMID: 34954817; 35621276). Clinical characteristics were suggestive of a mitochondrial disease including hypotonia, developmental delay, encephalopathy, seizures, hypertrophic cardiomyopathy, lactic acidosis and progressive brain atrophy, among some other variable features. In vitro studies showed that patient-derived variants reduced ATP5PO expression with downstream effects on ATPase assembly and/or OXPHOS function.

Created: 13 Apr 2023, 10:52 a.m. | Last Modified: 13 Apr 2023, 10:52 a.m.

Panel Version: 4.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex V (ATP synthase) deficiency

Publications

• 34954817
• 35621276

Added new-gene-name tag, new approved HGNC gene symbol is ATP5PO

Created: 21 Mar 2018, 1:04 p.m.

Comment when marking as ready: Candidate gene - kept on red list.

Created: 26 Feb 2016, 1:39 p.m.

I don't know

no mutation reports in literature;
good candidate gene for mitochondrial complex V (ATP synthase) deficiency

Created: 3 Feb 2016, 6:11 p.m.