Likely inborn error of metabolism - targeted testing not possible
Gene: ATP5O
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
Added new-gene-name tag, new approved HGNC gene symbol for ATP5O is ATP5POCreated: 9 May 2019, 3:12 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 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)
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 34954817; 35621276
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.
Tag new-gene-name tag was added to gene: ATP5O.
Sarah Leigh: Associated with phenotype in O
gene: ATP5O was added gene: ATP5O was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ATP5O was set to Unknown Phenotypes for gene: ATP5O were set to No OMIM phenotype