Likely inborn error of metabolism - targeted testing not possible
Gene: ATP5EAdded new-gene-name tag, new approved HGNC gene symbol for ATP5E is ATP5F1ECreated: 9 May 2019, 3:06 p.m.
PMID: 34954817 reports two further cases of OMIM: 614053 who are both homozygous for ATP5E (new gene name: ATP5F1E) variant c.35A>G, p.Tyr12Cys (rs387906929), previously reported in PubMed: 20566710. Personal communication with the lead author of PMID: 34954817, confirmed that none of these cases were related to one another and so represent independent occurrences of this variant.Created: 4 Jan 2024, 6:04 p.m. | Last Modified: 4 Jan 2024, 6:04 p.m.
Panel Version: 4.90
Comment on phenotypes: Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)Created: 27 Sep 2019, 10:48 a.m. | Last Modified: 27 Sep 2019, 10:48 a.m.
Panel Version: 1.293
Comment on publications: pmid 27626380: knockout of the mouse homolog of human ATP5E is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning).Created: 27 Sep 2019, 10:42 a.m. | Last Modified: 27 Sep 2019, 10:42 a.m.
Panel Version: 1.292
Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Based on Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 1 reported case with functional studies.Created: 27 Sep 2019, 10:37 a.m. | Last Modified: 27 Sep 2019, 3:17 p.m.
Panel Version: 1.311
Comment on list classification: No additional variants have been reported to date.Created: 30 Apr 2019, 10:32 a.m.
Publications
Comment on list classification: Single case report therefore should remain red.Created: 26 Feb 2016, 12:45 p.m.
single report in the literature:
The 22-year-old woman presented with neonatal onset, lactic acidosis, 3-methylglutaconic aciduria, mild mental retardation and developed peripheral neuropathy. Patient fibroblasts showed 60-70% decrease in both oligomycin-sensitive ATPase activity and mitochondrial ATP synthesis.
Created: 3 Feb 2016, 6:20 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tag Q4_23_promote_green tag was added to gene: ATP5E.
Phenotypes for gene: ATP5E were changed from ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 614053 to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053; mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547
Publications for gene: ATP5E were set to 20566710; 27626380; 25954304
Phenotypes for gene: ATP5E were changed from Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 614053
Publications for gene: ATP5E were set to 20566710; 27626380; 25954304
Publications for gene: ATP5E were set to 20566710; 27626380; 25954304
Mode of inheritance for gene: ATP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP5E were set to 20566710
Gene: atp5e has been classified as Amber List (Moderate Evidence).
Publications for gene: ATP5E were set to PMID: 20566710
Tag new-gene-name tag was added to gene: ATP5E.
Source NHS GMS was added to ATP5E. Source London North GLH was added to ATP5E.
Sarah Leigh: Associated with phenotype in O
Added phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 for gene: ATP5E Publications for gene ATP5E were changed from 27604308 to PMID: 20566710
gene: ATP5E was added gene: ATP5E was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ATP5E was set to Unknown Publications for gene: ATP5E were set to 27604308 Phenotypes for gene: ATP5E were set to Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)