Mitochondrial disorder with complex V deficiency
Gene: ATP5A1
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 12:09 p.m. | Last Modified: 1 Feb 2023, 12:09 p.m.
Panel Version: 1.17
Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green. MOI has also been updated from biallelic to both mono- and biallelic inline with this review.Created: 30 Aug 2022, 9:10 a.m. | Last Modified: 30 Aug 2022, 9:10 a.m.
Panel Version: 1.10
Two families (with two affected sibs each) reported with recessive variants and supported by functional studies (PMIDs: 23599390; 23596069). Six unrelated patients have been reported with heterozygous variants; including one recurrent variant c.620G>A in four cases, c.545G>A and c.1037C>T in the remaining two, respectively (PMIDs: 34483339; 34954817).Created: 30 Aug 2022, 9:08 a.m. | Last Modified: 30 Aug 2022, 9:08 a.m.
Panel Version: 1.9
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228; Combined oxidative phosphorylation deficiency 22, OMIM: 616045
Publications
Variants in this GENE are reported as part of current diagnostic practice
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
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 studiesCreated: 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
ATP5A1 has a new gene name: ATP5F1ACreated: 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
Added new-gene-name tag, new approved HGNC gene symbol is ATP5F1ACreated: 21 Mar 2018, 1:01 p.m.
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.
single report in literature - two affected siblingsCreated: 3 Feb 2016, 6 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tag Q3_22_rating was removed from gene: ATP5A1. Tag Q3_22_NHS_review was removed from gene: ATP5A1.
Source Expert Review Green was added to ATP5A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: ATP5A1 were set to 23596069; 23599390
Phenotypes for gene: ATP5A1 were changed from ?Combined oxidative phosphorylation deficiency 22, 616045; ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228 to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228; Combined oxidative phosphorylation deficiency 22, OMIM: 616045
Mode of inheritance for gene: ATP5A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q3_22_rating tag was added to gene: ATP5A1. Tag Q3_22_NHS_review tag was added to gene: ATP5A1.
Publications for gene: ATP5A1 were set to
Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Tag new-gene-name tag was added to gene: ATP5A1.
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