1. Panels
  2. Possible mitochondrial disorder - nuclear genes
  3. COX6B2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Possible mitochondrial disorder - nuclear genes

Gene: COX6B2

Red List (low evidence)
COX6B2 (cytochrome c oxidase subunit 6B2)
EnsemblGeneIds (GRCh38): ENSG00000160471
EnsemblGeneIds (GRCh37): ENSG00000160471
COX6B2 is in 3 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.
Created: 12 Mar 2024, 5:03 p.m. | Last Modified: 12 Mar 2024, 5:03 p.m.
Panel Version: 3.97
Created: 12 Mar 2024, 5:03 p.m.
Last Modified: 12 Mar 2024, 5:03 p.m.
Panel version: 3.97

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: no reports of human disease; complex IV subunit
Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

Publications

  • none found

Created: 10 May 2019, 1:02 p.m.

Panel version: 0.134

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Created: 29 Mar 2019, 2:28 p.m.
Created: 29 Mar 2019, 2:28 p.m.

Panel version: 0.99

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Clinvar variants
Variants in COX6B2
Penetrance
None
Panels with this gene

History Filter Activity

12 Mar 2024, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: cox6b2 has been classified as Red List (Low Evidence).

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: cox6b2 has been classified as Amber List (Moderate Evidence).

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: COX6B2 was added gene: COX6B2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COX6B2 was set to Unknown Phenotypes for gene: COX6B2 were set to No OMIM phenotype