Genes in panel
STRs in panel
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Inborn errors of metabolism

Gene: COA1

Red List (low evidence)

COA1 (cytochrome c oxidase assembly factor 1 homolog)
EnsemblGeneIds (GRCh38): ENSG00000106603
EnsemblGeneIds (GRCh37): ENSG00000106603
OMIM: 614769, Gene2Phenotype
COA1 is in 4 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Candidate gene - should remain red.
Created: 26 Feb 2016, 3:45 p.m.

Shamima Rahman (UCL Institute of Child Health)

I don't know

aka C7orf44;

no mutation reports in literature but good candidate for complex IV deficiency (known assembly factor)
Created: 4 Feb 2016, 1:04 p.m.

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
OMIM
614769
Clinvar variants
Variants in COA1
Penetrance
None
Panels with this gene

History Filter Activity

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: COA1 was added gene: COA1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COA1 was set to Unknown Phenotypes for gene: COA1 were set to No OMIM phenotype