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  2. Likely inborn error of metabolism
  3. COX6B1
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Likely inborn error of metabolism

Gene: COX6B1

Green List (high evidence)
COX6B1 (cytochrome c oxidase subunit 6B1)
EnsemblGeneIds (GRCh38): ENSG00000126267
EnsemblGeneIds (GRCh37): ENSG00000126267
OMIM: 124089, Gene2Phenotype
COX6B1 is in 10 panels

1 review

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 3 Feb 2016, 4:48 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051
OMIM
124089
Clinvar variants
Variants in COX6B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Nov 2020, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: COX6B1 were set to 27604308

16 Nov 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: COX6B1 were changed from Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex IV deficiency; Cytochrome c oxidase deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to COX6B1. Source London North GLH was added to COX6B1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex IV deficiency; Cytochrome c oxidase deficiency, 220110 for gene: COX6B1 Publications for gene COX6B1 were changed from to 27604308

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: COX6B1 was added gene: COX6B1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COX6B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX6B1 were set to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency; Cytochrome c oxidase deficiency, 220110