Early onset or syndromic epilepsy
Gene: ATP5O
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
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.
Tag Q2_23_promote_green was removed from gene: ATP5O.
Source Expert Review Green was added to ATP5O. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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
gene: ATP5O was added gene: ATP5O was added to Early onset or syndromic epilepsy. Sources: NHS GMS,Expert Review Amber new-gene-name, Q2_23_promote_green tags were added to gene: ATP5O. Mode of inheritance for gene: ATP5O was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP5O were set to 34954817; 35621276 Phenotypes for gene: ATP5O were set to Mitochondrial complex V (ATP synthase) deficiency