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Possible mitochondrial disorder - nuclear genes

Gene: ATP5O

Amber List (moderate evidence)

ATP5O (ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit)
EnsemblGeneIds (GRCh38): ENSG00000241837
EnsemblGeneIds (GRCh37): ENSG00000241837
OMIM: 600828, Gene2Phenotype
ATP5O is in 4 panels

5 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

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, 1:02 p.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

Publications

  • none found

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.
Created: 4 Feb 2019, 1:36 p.m.
New gene symbol: ATP5PO
Created: 4 Feb 2019, 1:15 p.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol is ATP5PO
Created: 21 Mar 2018, 1:04 p.m.

Ellen McDonagh (Genomics England Curator)

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, 1:12 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, 1:25 p.m.
Comment when marking as ready: Candidate gene - kept on red list.
Created: 26 Feb 2016, 1:39 p.m.

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.

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
new-gene-name
OMIM
600828
Clinvar variants
Variants in ATP5O
Penetrance
None
Panels with this gene

History Filter Activity

10 May 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: atp5o has been classified as Amber List (Moderate Evidence).

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: atp5o has been classified as Amber List (Moderate Evidence).

4 Feb 2019, Gel status: 4

Added Tag

Ivone Leong (Genomics England Curator)

Tag new-gene-name tag was added to gene: ATP5O.

4 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: ATP5O was added gene: ATP5O was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ATP5O was set to Unknown Phenotypes for gene: ATP5O were set to No OMIM phenotype