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Possible mitochondrial disorder - nuclear genes

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, 1:02 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)

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.
Created: 4 Feb 2019, 1:36 p.m.
New gene symbol: ATP5F1E
Created: 4 Feb 2019, 12:57 p.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, 1:08 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, 1:23 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
Publications
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).

10 May 2019, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: ATP5E were set to

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 Possible mitochondrial disorder - nuclear genes. 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