Undiagnosed metabolic disorders
Gene: ATP5A1EnsemblGeneIds (GRCh38): ENSG00000152234
EnsemblGeneIds (GRCh37): ENSG00000152234
OMIM: 164360, Gene2Phenotype
ATP5A1 is in 7 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: There is now sufficient evidence to support this gene-disease association and therefore ATP5A1 has been promoted to Green.Created: 24 Aug 2022, 3:43 p.m. | Last Modified: 24 Aug 2022, 3:43 p.m.
Panel Version: 1.545
Comment on mode of inheritance: 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: 24 Aug 2022, 3:41 p.m. | Last Modified: 24 Aug 2022, 3:41 p.m.
Panel Version: 1.543
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol is ATP5F1ACreated: 21 Mar 2018, 1:01 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 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 phenotypeCreated: 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
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 22, OMIM: 616045
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228
- Tags
- OMIM
- 164360
- Clinvar variants
- Variants in ATP5A1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATP5A1 were changed from 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 to Combined oxidative phosphorylation deficiency 22, OMIM: 616045; Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: atp5a1 has been classified as Green List (High Evidence).
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: ATP5A1 were set to 27604308; 23599390; 23596069
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: ATP5A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: ATP5A1 were set to 27604308
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
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
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
Added New Source
Sarah Leigh (Genomics England Curator)ATP5A1 was added to Undiagnosed metabolic disorderspanel. Sources: Literature
Created
Sarah Leigh (Genomics England Curator)ATP5A1 was created by sleigh