Mitochondrial disorder with complex V deficiency

Gene: ATP5E

Amber List (moderate evidence)

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

5 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

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

Ivone Leong (Genomics England Curator)

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

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.

Ellen McDonagh (Genomics England Curator)

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.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053
Tags
new-gene-name
OMIM
606153
Clinvar variants
Variants in ATP5E
Penetrance
None
Panels with this gene

History Filter Activity

10 May 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: atp5e has been classified as Amber List (Moderate Evidence).

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: atp5e has been classified as Amber List (Moderate Evidence).

4 Feb 2019, Gel status: 4

Added Tag

Ivone Leong (Genomics England Curator)

Tag new-gene-name tag was added to gene: ATP5E.

4 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: ATP5E was added gene: ATP5E was added to Mitochondrial disorder with complex V deficiency. 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