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Undiagnosed metabolic disorders

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

2 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol is ATP5F1E
Created: 21 Mar 2018, 12:53 p.m.

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

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: 1.322
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: 1.321
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. 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: 27 Sep 2019, 10:40 a.m. | Last Modified: 27 Sep 2019, 3:18 p.m.
Panel Version: 1.342
Associated with phenotype in OMIM, not in G2P. One variant reported
Created: 23 Feb 2017, 5:12 p.m.

Mode of inheritance
Unknown

Phenotypes
Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 614053
Tags
new-gene-name
OMIM
606153
Clinvar variants
Variants in ATP5E
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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: 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 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) 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

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 27604308; 20566710

27 Sep 2019, Gel status: 1

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: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ATP5E were set to 27604308

27 Feb 2017, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added

24 Feb 2017, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

ATP5E was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Red Model of inheritance for gene ATP5E was set to Unknown

28 Oct 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

ATP5E was added to Undiagnosed metabolic disorderspanel. Sources: Literature

28 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ATP5E was created by sleigh