Mitochondrial disorders
Gene: ATP5E

ATP5E (ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit)
EnsemblGeneIds (GRCh38): ENSG00000124172
EnsemblGeneIds (GRCh37): ENSG00000124172
OMIM: 606153, Gene2Phenotype
ATP5E is in 6 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 2 May 2024, 10:34 a.m. | Last Modified: 2 May 2024, 10:34 a.m.

Panel Version: 6.3

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.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 30 Apr 2019, 10:32 a.m.

Panel version: 6.4

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol is ATP5F1E
Created: 21 Mar 2018, 12:50 p.m.

Created: 21 Mar 2018, 12:50 p.m.

Panel version: 1.66

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Single case report therefore should remain red.
Created: 26 Feb 2016, 12:45 p.m.

Created: 26 Feb 2016, 12:45 p.m.

Panel version: 0.343

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

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

Created: 3 Feb 2016, 6:20 p.m.

Panel version: 0.16

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
Victorian Clinical Genetics Services
Radboud University Medical Center, Nijmegen
Expert list
Expert

Phenotypes

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053
mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547

Tags

new-gene-name

OMIM

606153

Clinvar variants

Variants in ATP5E

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

2 May 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: ATP5E.

2 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to ATP5E. Source Expert Review Green was added to ATP5E. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

4 Jan 2024, Gel status: 2