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  3. ATP5C1
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Possible mitochondrial disorder - nuclear genes

Gene: ATP5C1

Amber List (moderate evidence)
ATP5C1 (ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1)
EnsemblGeneIds (GRCh38): ENSG00000165629
EnsemblGeneIds (GRCh37): ENSG00000165629
OMIM: 108729, Gene2Phenotype
ATP5C1 is in 4 panels

5 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: no reports of human disease; complex V subunit
Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

Publications

  • none found

Created: 10 May 2019, 1:02 p.m.

Panel version: 0.134

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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: 4 Feb 2019, 1:36 p.m.
New gene symbol: ATP5F1C
Created: 4 Feb 2019, 12:56 p.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

Created: 4 Feb 2019, 12:56 p.m.

Panel version: 0.5

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol is ATP5F1C
Created: 21 Mar 2018, 12:54 p.m.
Created: 21 Mar 2018, 12:54 p.m.

Panel version: Imported from Mitochondrial disorders panel version 1.66

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Created: 10 May 2019, 1:06 p.m.
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, 1:22 p.m.
Comment on list classification: Candidate gene therefore should remain on the red list.
Created: 26 Feb 2016, 12:43 p.m.
Created: 26 Feb 2016, 12:43 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.342

Shamima Rahman (UCL Institute of Child Health)

I don't know

no mutation reports in literature;
good candidate gene for mitochondrial complex V (ATP synthase) deficiency
Created: 3 Feb 2016, 6:03 p.m.
Created: 3 Feb 2016, 6:03 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.16

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
new-gene-name
OMIM
108729
Clinvar variants
Variants in ATP5C1
Penetrance
None
Panels with this gene

History Filter Activity

10 May 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: atp5c1 has been classified as Amber List (Moderate Evidence).

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: atp5c1 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: ATP5C1.

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: ATP5C1 was added gene: ATP5C1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ATP5C1 was set to Unknown Phenotypes for gene: ATP5C1 were set to No OMIM phenotype