Likely inborn error of metabolism

Gene: ATP5E

Added new-gene-name tag, new approved HGNC gene symbol for ATP5E is ATP5F1E

Created: 9 May 2019, 3:06 p.m.

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: 4 May 2024, 3:17 p.m. | Last Modified: 4 May 2024, 3:17 p.m.

Panel Version: 5.3

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: 4.90

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.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 27604308
• 34954817
• 20566710

Comment on list classification: Single case report therefore should remain red.

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

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