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Undiagnosed metabolic disorders

Gene: ATP5A1

Amber List (moderate evidence)

ATP5A1 (ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle)
EnsemblGeneIds (GRCh38): ENSG00000152234
EnsemblGeneIds (GRCh37): ENSG00000152234
OMIM: 164360, Gene2Phenotype
ATP5A1 is in 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol is ATP5F1A
Created: 21 Mar 2018, 1:01 p.m.

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

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. The Amber rating is based on the views of Anna de Burca (Genomics England Clinical Fellow) that the interpretation of PMID 23599390 that the boys in this publication have inherited a heterozygous variant from their father while not expressing the maternal allele due to unknown variant affecting expression.
Created: 22 Aug 2019, 10:03 a.m. | Last Modified: 27 Sep 2019, 3:08 p.m.
Panel Version: 1.342
Associated with phenotypes in OMIM, not in G2P. At one variant reported for each phenotype
Created: 23 Feb 2017, 5:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Combined oxidative phosphorylation deficiency 22 616045; ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 615228

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • ?Combined oxidative phosphorylation deficiency 22 616045
  • ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 615228
Tags
new-gene-name
OMIM
164360
Clinvar variants
Variants in ATP5A1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Aug 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ATP5A1 were set to 27604308

22 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: atp5a1 has been classified as Amber List (Moderate Evidence).

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)

ATP5A1 was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Red Model of inheritance for gene ATP5A1 was set to BIALLELIC, autosomal or pseudoautosomal

28 Oct 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

ATP5A1 was added to Undiagnosed metabolic disorderspanel. Sources: Literature

28 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ATP5A1 was created by sleigh