Mitochondrial disorder with complex V deficiency

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

6 reviews

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, 10:02 a.m. | Last Modified: 22 Aug 2019, 10:02 a.m.
Panel Version: 1.0

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, 12:10 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)

ATP5A1 has a new gene name: ATP5F1A
Created: 4 Feb 2019, 11:43 a.m.
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. Gene Symbol submitted: ATP5F1A; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.
Created: 4 Feb 2019, 10:48 a.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)

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: 31 Jul 2019, 4:24 p.m. | Last Modified: 31 Jul 2019, 4:24 p.m.
Panel Version: 0.26
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, 1:11 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

10 May 2019, Gel status: 2

Set publications

Ellen McDonagh (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 Mitochondrial disorder with complex V deficiency. 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