Likely inborn error of metabolism
Gene: ATP5O

ATP5O (ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit)
EnsemblGeneIds (GRCh38): ENSG00000241837
EnsemblGeneIds (GRCh37): ENSG00000241837
OMIM: 600828, Gene2Phenotype
ATP5O is in 6 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 11 Oct 2023, 12:32 p.m. | Last Modified: 11 Oct 2023, 12:32 p.m.

Panel Version: 4.51

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, 10:52 a.m. | Last Modified: 13 Apr 2023, 10:52 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, 10:51 a.m. | Last Modified: 13 Apr 2023, 10:51 a.m.

Panel Version: 4.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex V (ATP synthase) deficiency

Publications

Created: 13 Apr 2023, 10:51 a.m.
Last Modified: 13 Apr 2023, 10:51 a.m.
Panel version: 4.51

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for ATP5O is ATP5PO
Created: 9 May 2019, 3:12 p.m.

Created: 9 May 2019, 3:12 p.m.

Panel version: 1.54

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Candidate gene - kept on red list.
Created: 26 Feb 2016, 1:39 p.m.

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

Panel version: Imported from Mitochondrial disorders panel version 0.346

Shamima Rahman (UCL Institute of Child Health)

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.

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

Panel version: Imported from Mitochondrial disorders panel version 0.16

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359

Tags

new-gene-name

OMIM

600828

Clinvar variants

Variants in ATP5O

Penetrance

None

Publications

Panels with this gene

History Filter Activity

11 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: ATP5O.

11 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to ATP5O. Source Expert Review Green was added to ATP5O. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Aug 2023, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ATP5O were changed from Mitochondrial complex V (ATP synthase) deficiency to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359

13 Apr 2023, Gel status: 2