Early onset or syndromic epilepsy

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, 11:59 a.m. | Last Modified: 11 Oct 2023, 11:59 a.m.

Panel Version: 4.110

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, 10:48 a.m. | Last Modified: 13 Apr 2023, 10:48 a.m.

Panel Version: 2.2

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, 10:47 a.m. | Last Modified: 13 Apr 2023, 10:47 a.m.

Panel Version: 2.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex V (ATP synthase) deficiency

Publications

• 34954817
• 35621276

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: no reports of human disease; complex V subunit

Created: 10 May 2019, 12:10 p.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

Publications

• none found

Green List (high evidence)

ATP5O has a new gene name: ATP5PO

Created: 4 Feb 2019, noon

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: ATP5PO; Suggested intial gene rating: Green.

Created: 4 Feb 2019, 10:48 a.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

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: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.

Created: 10 May 2019, 12:40 p.m.

Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.

Created: 29 Mar 2019, 1:15 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.