Genes in panel
STRs in panel
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Inborn errors of metabolism

Gene: COX5B

Red List (low evidence)

COX5B (cytochrome c oxidase subunit 5B)
EnsemblGeneIds (GRCh38): ENSG00000135940
EnsemblGeneIds (GRCh37): ENSG00000135940
OMIM: 123866, Gene2Phenotype
COX5B is in 4 panels

1 review

Shamima Rahman (UCL Institute of Child Health)

I don't know

no mutation reports in literature;

good candidate gene for complex IV deficiency (encodes a subunit of the enzyme)
Created: 4 Feb 2016, 1:19 p.m.

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
OMIM
123866
Clinvar variants
Variants in COX5B
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: COX5B was added gene: COX5B was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COX5B was set to Unknown Phenotypes for gene: COX5B were set to No OMIM phenotype