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Inborn errors of metabolism

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

4 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for ATP5E is ATP5F1E
Created: 9 May 2019, 3:06 p.m.

Sarah Leigh (Genomics England Curator)

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.

Ellen McDonagh (Genomics England Curator)

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
  • London North GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
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

27 Sep 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ATP5E were set to 20566710; 27626380; 25954304

27 Sep 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ATP5E were changed from Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 614053

27 Sep 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ATP5E were set to 20566710; 27626380; 25954304

27 Sep 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ATP5E were set to 20566710; 27626380; 25954304

27 Sep 2019, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: ATP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

27 Sep 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ATP5E were set to 20566710

27 Sep 2019, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

27 Sep 2019, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ATP5E were set to PMID: 20566710

9 May 2019, Gel status: 1

Added Tag

Louise Daugherty (Genomics England Curator)

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

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ATP5E. Source London North GLH was added to ATP5E.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 for gene: ATP5E Publications for gene ATP5E were changed from 27604308 to PMID: 20566710

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: ATP5E was added gene: ATP5E was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ATP5E was set to Unknown Publications for gene: ATP5E were set to 27604308 Phenotypes for gene: ATP5E were set to Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)