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Inborn errors of metabolism

Gene: COX7B2

Red List (low evidence)

COX7B2 (cytochrome c oxidase subunit 7B2)
EnsemblGeneIds (GRCh38): ENSG00000170516
EnsemblGeneIds (GRCh37): ENSG00000170516
OMIM: 609811, Gene2Phenotype
COX7B2 is in 2 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, 2:12 p.m.

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
Phenotypes
  • ?{Nasopharyngeal carcinoma, susceptibility to}, 607107
OMIM
609811
Clinvar variants
Variants in COX7B2
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: COX7B2 was added gene: COX7B2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COX7B2 was set to Unknown Phenotypes for gene: COX7B2 were set to ?{Nasopharyngeal carcinoma, susceptibility to}, 607107