Genes in panel
STRs in panel
Prev Next

Inborn errors of metabolism

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 for ATP5C1 is ATP5F1C
Created: 9 May 2019, 3:05 p.m.

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.

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.

Details

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

History Filter Activity

9 May 2019, Gel status: 1

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: ATP5C1.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: ATP5C1 was added gene: ATP5C1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ATP5C1 was set to Unknown Phenotypes for gene: ATP5C1 were set to No OMIM phenotype