Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Possible mitochondrial disorder - nuclear genes

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

7 reviews

Zornitza Stark (Australian Genomics)

I don't know

New MOI

PMID: 34483339; the same de novo variant identified in 3 unrelated neonates presenting with feeding intolerance, failure to thrive, hyperammonaemia and lactic acidaemia. Although subclinical biochemical abnormalities persisted in each case, the major clinical symptoms appeared to remit by late infancy in all cases.
Created: 4 Dec 2021, 2:39 a.m. | Last Modified: 4 Dec 2021, 2:39 a.m.
Panel Version: 1.60

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
feeding intolerance, failure to thrive, hyperammonaemia, lactic acidaemia

Publications

Sarah Leigh (Genomics England Curator)

I don't know

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 have inherited a heterozygous variant from their father while not expressing the maternal allele due to unknown variant affecting expression.
Created: 22 Aug 2019, 9:59 a.m. | Last Modified: 22 Aug 2019, 9:59 a.m.
Panel Version: 1.2

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 2 unrelated families (2 siblings in each family) and functional studies
Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

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: ATP5F1A
Created: 4 Feb 2019, 12:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

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.

Ellen McDonagh (Genomics England Curator)

Due to unknown mechanism of inheritance from the mother in two of the reported cases in PMID: 23599390, it was confirmed with the Mitochondrial disease specialist group to keep this gene as Amber for now until more evidence arises.
Created: 31 Jul 2019, 4:28 p.m. | Last Modified: 31 Jul 2019, 4:28 p.m.
Panel Version: 0.206
Comment on publications: PMID: 23599390 - the boys were reported to have inherited a heterozygous variant from their father and don’t seem to express the maternal allele, which they conclude must be due to an unknown variant affecting expression.
Created: 5 Jun 2019, 1:10 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, 1:22 p.m.
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
  • NHS GMS
Phenotypes
  • ?Combined oxidative phosphorylation deficiency 22, 616045
  • ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228
Tags
new-gene-name
OMIM
164360
Clinvar variants
Variants in ATP5A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jun 2019, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: ATP5A1 were set to 23596069; 23599390

5 Jun 2019, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: ATP5A1 were set to 23596069; 23599390

4 Jun 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ATP5A1 were set to

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: atp5a1 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: ATP5A1.

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: ATP5A1 was added gene: ATP5A1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ATP5A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP5A1 were set to ?Combined oxidative phosphorylation deficiency 22, 616045; ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228