Possible mitochondrial disorder - nuclear genes
Gene: ATP5E
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. In addition, PMID: 34954817 reports significantly reduced ATPase amounts associated with the ATP5F1E variants.Created: 4 Jan 2024, 5:50 p.m. | Last Modified: 18 Mar 2024, 1:58 p.m.
Panel Version: 3.103
Two new, unrelated patients reported, bringing the total to three unrelated patients with the same homozygous missense ATP5F1E mutation (PMID: 34954817)Created: 22 Aug 2023, 4:01 p.m. | Last Modified: 22 Aug 2023, 4:01 p.m.
Panel Version: 3.48
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3
Publications
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 1 reported case with functional studiesCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053
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: ATP5F1ECreated: 4 Feb 2019, 12:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053
Added new-gene-name tag, new approved HGNC gene symbol is ATP5F1ECreated: 21 Mar 2018, 12:50 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, 1:08 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, 1:23 p.m.
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 new-gene-name was removed from gene: ATP5E. Tag Q4_23_promote_green was removed from gene: ATP5E. Tag Q4_23_NHS_review was removed from gene: ATP5E. Tag watchlist tag was added to gene: ATP5E. Tag Q1_24_promote_green tag was added to gene: ATP5E. Tag Q1_24_NHS_review 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
Tag Q4_23_expert_review was removed from gene: ATP5E. Tag Q4_23_NHS_review tag was added to gene: ATP5E.
Tag Q4_23_promote_green tag was added to gene: ATP5E. Tag Q4_23_expert_review tag was added to gene: ATP5E.
Publications for gene: ATP5E were set to 20566710; 25954304
Gene: atp5e has been classified as Amber List (Moderate Evidence).
Publications for gene: ATP5E were set to
Gene: atp5e has been classified as Amber List (Moderate Evidence).
Tag new-gene-name tag was added to gene: ATP5E.
gene: ATP5E was added gene: ATP5E was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ATP5E was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP5E were set to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053