Mitochondrial disorder with complex V deficiency
Gene: ATP5O
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
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 subunitCreated: 10 May 2019, 12:10 p.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
Publications
ATP5O has a new gene name: ATP5POCreated: 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 ATP5POCreated: 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.
no mutation reports in literature;
good candidate gene for mitochondrial complex V (ATP synthase) deficiencyCreated: 3 Feb 2016, 6:11 p.m.
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
Phenotypes for gene: ATP5O were changed from No OMIM phenotype to Mitochondrial complex V (ATP synthase) deficiency
Publications for gene: ATP5O were set to
Mode of inheritance for gene: ATP5O was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: atp5o has been classified as Amber List (Moderate Evidence).
Tag Q2_23_promote_green tag was added to gene: ATP5O.
Gene: atp5o has been classified as Amber List (Moderate Evidence).
Gene: atp5o has been classified as Amber List (Moderate Evidence).
Tag new-gene-name tag was added to gene: ATP5O.
gene: ATP5O was added gene: ATP5O was added to Mitochondrial disorder with complex V deficiency. 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