Mitochondrial disorder with complex V deficiency

Gene: ATP5E

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 5 Dec 2024, 6:42 p.m. | Last Modified: 5 Dec 2024, 6:42 p.m.

Panel Version: 2.18

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

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: 2.12

Publications

• 27604308
• 34954817
• 20566710

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 1 reported case with functional studies

Created: 10 May 2019, 12:10 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053

Publications

• 20566710
• 25954304

Green List (high evidence)

ATP5E has a new gene name: ATP5F1E

Created: 4 Feb 2019, 11:48 a.m.

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. Gene Symbol submitted: ATP5F1E; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.

Created: 4 Feb 2019, 10:48 a.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 ATP5F1E

Created: 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, 12:36 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, 1:13 p.m.

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