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Possible mitochondrial disorder - nuclear genes

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

4 reviews

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
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Mitochondrial complex IV deficiency, 220110

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

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.

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

History Filter Activity

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: COX14 was added gene: COX14 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX14 were set to ?Mitochondrial complex IV deficiency, 220110