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Mitochondrial disorders

Gene: ATP5F1

Red List (low evidence)
ATP5F1 (ATP synthase, H+ transporting, mitochondrial Fo complex subunit B1)
EnsemblGeneIds (GRCh38): ENSG00000116459
EnsemblGeneIds (GRCh37): ENSG00000116459
OMIM: 603270, Gene2Phenotype
ATP5F1 is in 3 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated from Amber to Red following NHS Genomic Medicine Service approval.
Created: 29 Jul 2022, 1:47 p.m. | Last Modified: 29 Jul 2022, 1:47 p.m.
Panel Version: 2.109
Created: 29 Jul 2022, 1:47 p.m.
Last Modified: 29 Jul 2022, 1:47 p.m.
Panel version: 2.109

Zornitza Stark (Australian Genomics)

Red List (low evidence)

I cannot find any link to human disease in OMIM or PubMed.
Created: 18 Mar 2020, 6:33 a.m. | Last Modified: 18 Mar 2020, 6:33 a.m.
Panel Version: 2.5
Created: 18 Mar 2020, 6:33 a.m.
Last Modified: 18 Mar 2020, 6:33 a.m.
Panel version: 2.5

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for ATP5F1 is ATP5PB
Created: 18 Dec 2019, 3:31 p.m. | Last Modified: 18 Dec 2019, 3:31 p.m.
Panel Version: 2.3
Created: 18 Dec 2019, 3:31 p.m.
Last Modified: 18 Dec 2019, 3:31 p.m.
Panel version: 2.3

Sarah Leigh (Genomics England Curator)

I don't know

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: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.
Panel Version: 1.412
Created: 23 Jul 2019, 10:13 a.m.
Last Modified: 23 Jul 2019, 10:13 a.m.
Panel version: 1.412

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
new-gene-name
OMIM
603270
Clinvar variants
Variants in ATP5F1
Penetrance
None
Panels with this gene

History Filter Activity

29 Jul 2022, Gel status: 1

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Red was added to ATP5F1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

18 Dec 2019, Gel status: 2

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: ATP5F1.

23 Jul 2019, Gel status: 2

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

Sarah Leigh (Genomics England Curator)

gene: ATP5F1 was added gene: ATP5F1 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: ATP5F1 was set to Unknown Phenotypes for gene: ATP5F1 were set to No OMIM phenotype