Possible mitochondrial disorder - nuclear genes
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, 10:52 a.m. | Last Modified: 13 Apr 2023, 10:52 a.m.
Panel Version: 3.4
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: 3.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex V (ATP synthase) deficiency
Publications
Consensus opinion from the 3 specialist mitochondrial providers.Created: 31 Jul 2023, 9:55 a.m. | Last Modified: 31 Jul 2023, 9:55 a.m.
Panel Version: 3.33
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, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
620359 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7
Publications
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: ATP5POCreated: 4 Feb 2019, 1:15 p.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, 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.
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
Tag Q3_23_NHS_review tag was added to gene: ATP5O.
Phenotypes for gene: ATP5O were changed from No OMIM phenotype to Mitochondrial complex V (ATP synthase) deficiency
Mode of inheritance for gene: ATP5O was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP5O were set to
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 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