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  3. ATP5C1
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Mitochondrial disorders

Gene: ATP5C1

Red List (low 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

3 reviews

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: 1.66

Ellen McDonagh (Genomics England Curator)

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: 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: 0.16

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
new-gene-name
OMIM
108729
Clinvar variants
Variants in ATP5C1
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

26 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

30 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ATP5C1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen