Mitochondrial disorders
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.Created: 4 Jan 2024, 6:04 p.m. | Last Modified: 4 Jan 2024, 6:04 p.m.
Panel Version: 4.127
Comment on list classification: No additional variants have been reported to date.Created: 30 Apr 2019, 10:32 a.m.
Publications
Added new-gene-name tag, new approved HGNC gene symbol is ATP5F1ECreated: 21 Mar 2018, 12:50 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 Q4_23_promote_green tag was added to gene: ATP5E.
Publications for gene: ATP5E were set to 20566710
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
Gene: atp5e has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: ATP5E was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP5E were set to PMID: 20566710
Phenotypes for gene: ATP5E were changed from ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 614053
Gene: atp5e has been classified as Red List (Low Evidence).
Victorian Clinical Genetics Services was added to ATP5E. Panel: Mitochondrial disorders
This gene has been classified as Red List (Low Evidence).
Phenotypes for ATP5E were set to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3
Publications for ATP5E were set to PMID: 20566710
This gene has been classified as Red List (Low Evidence).
ATP5E was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
ATP5E was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
ATP5E was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen