Genes in panel

Likely inborn error of metabolism - targeted testing not possible

Gene: COX4I1

Red List (low evidence)

COX4I1 (cytochrome c oxidase subunit 4I1)
EnsemblGeneIds (GRCh38): ENSG00000131143
EnsemblGeneIds (GRCh37): ENSG00000131143
OMIM: 123864, Gene2Phenotype
COX4I1 is in 4 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted to red as the evidence for this gene is uncertain.
Created: 8 Feb 2016, 11:27 a.m.

Shamima Rahman (UCL Institute of Child Health)

I don't know

no reports of mutations in literature
Created: 3 Feb 2016, 5:15 p.m.


Mode of Inheritance
  • Expert Review Red
  • Mitochondrial Diseases
  • No OMIM phenotype
Clinvar variants
Variants in COX4I1
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: COX4I1 was added gene: COX4I1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COX4I1 was set to Unknown Phenotypes for gene: COX4I1 were set to Mitochondrial Diseases; No OMIM phenotype