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  2. Likely inborn error of metabolism
  3. COX14
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Likely inborn error of metabolism

Gene: COX14

Green List (high evidence)
COX14 (COX14, cytochrome c oxidase assembly factor)
EnsemblGeneIds (GRCh38): ENSG00000178449
EnsemblGeneIds (GRCh37): ENSG00000178449
OMIM: 614478, Gene2Phenotype
COX14 is in 10 panels

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:38 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Both reviewers agree this should be promoted from red to green, and one reports variants within this gene as part of diagnostic practice. It is a possible DD gene for mitochondrial complex IV deficiency.
Created: 10 Feb 2016, 11:55 a.m.
Comment on mode of inheritance: Confirmed on OMIM and G2P.
Created: 10 Feb 2016, 11:53 a.m.
Created: 10 Feb 2016, 11:52 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.148

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

aka C12orf62;

single mutation report in literature
Created: 4 Feb 2016, 1:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 4 Feb 2016, 1:11 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, 220110
  • Isolated complex IV deficiency
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
OMIM
614478
Clinvar variants
Variants in COX14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to COX14. Source London North GLH was added to COX14.

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 complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: COX14 Publications for gene COX14 were changed from PMID: 22243966 to 27604308

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: COX14 was added gene: COX14 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX14 were set to PMID: 22243966 Phenotypes for gene: COX14 were set to Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency