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Inborn errors of metabolism

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

4 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for ATP5A1 is ATP5F1A
Created: 9 May 2019, 2:59 p.m.

Sarah Leigh (Genomics England Curator)

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 mentioned in this article have inherited a heterozygous variant from their father while not expressing the maternal allele due to unknown variant affecting expression.
Created: 22 Aug 2019, 10:01 a.m. | Last Modified: 27 Sep 2019, 3:07 p.m.
Panel Version: 1.311
Comment on list classification: No additional variants have been reported to date.
Created: 30 Apr 2019, 10:26 a.m.
Comment on publications: PMID: 23599390 (two siblings with a severe neonatal encephalopathy caused by complex V deficiency);PMID: 23596069 (newborn female with failure to thrive, microcephaly, encephalopathy, IUGR, hypotonia, bacteremia, pulmonary hypertension, heart failure, and mitchondrial depletion).
Created: 30 Apr 2019, 10:25 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Kept as red, as each phenotype association has only been reported in one family - as indicated by reviewer's comment.
Created: 26 Feb 2016, 12:40 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

single report in literature - two affected siblings
Created: 3 Feb 2016, 6 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
  • ?Combined oxidative phosphorylation deficiency 22
  • Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4
  • ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 615228
  • ?Combined oxidative phosphorylation deficiency 22 616045
Tags
new-gene-name
OMIM
164360
Clinvar variants
Variants in ATP5A1
Penetrance
None
Publications
  • PMID: 23599390 (two siblings with a severe neonatal encephalopathy caused by complex V deficiency)
  • PMID: 23596069 (newborn female with failure to thrive, microcephaly, encephalopathy, IUGR, hypotonia, bacteremia, pulmonary hypertension, heart failure, and mitchondrial depletion).
Panels with this gene

History Filter Activity

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).

9 May 2019, Gel status: 1

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: ATP5A1.

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ATP5A1. Source London North GLH was added to ATP5A1.

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 ?Combined oxidative phosphorylation deficiency 22; ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 for gene: ATP5A1 Publications for gene ATP5A1 were changed from 27604308 to PMID: 23599390 (two siblings with a severe neonatal encephalopathy caused by complex V deficiency); PMID: 23596069 (newborn female with failure to thrive, microcephaly, encephalopathy, IUGR, hypotonia, bacteremia, pulmonary hypertension, heart failure, and mitchondrial depletion).

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: ATP5A1 was added gene: ATP5A1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ATP5A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP5A1 were set to 27604308 Phenotypes for gene: ATP5A1 were set to Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 615228; ?Combined oxidative phosphorylation deficiency 22 616045