1. Panels
  2. Mitochondrial disorders
  3. ATP5L
Genes in panel
Prev Next
STRs in panel
Prev Next

Mitochondrial disorders

Gene: ATP5L

Red List (low evidence)
ATP5L (ATP synthase, H+ transporting, mitochondrial Fo complex subunit G)
EnsemblGeneIds (GRCh38): ENSG00000167283
EnsemblGeneIds (GRCh37): ENSG00000167283
OMIM: 617473, Gene2Phenotype
ATP5L 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)

Cannot find evidence for Mendelian gene-disease association.
Created: 18 Mar 2020, 6:42 a.m. | Last Modified: 18 Mar 2020, 6:42 a.m.
Panel Version: 2.5
Created: 18 Mar 2020, 6:42 a.m.
Last Modified: 18 Mar 2020, 6:42 a.m.
Panel version: 2.5

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for ATP5L is ATP5MG
Created: 18 Dec 2019, 3:39 p.m. | Last Modified: 18 Dec 2019, 3:39 p.m.
Panel Version: 2.3
Created: 18 Dec 2019, 3:39 p.m.
Last Modified: 18 Dec 2019, 3:39 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
617473
Clinvar variants
Variants in ATP5L
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 ATP5L. 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: ATP5L.

23 Jul 2019, Gel status: 2

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

Sarah Leigh (Genomics England Curator)

gene: ATP5L was added gene: ATP5L was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: ATP5L was set to Unknown Phenotypes for gene: ATP5L were set to No OMIM phenotype