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  3. COX18
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Fetal anomalies

Gene: COX18

Amber List (moderate evidence)
COX18 (COX18, cytochrome c oxidase assembly factor)
EnsemblGeneIds (GRCh38): ENSG00000163626
EnsemblGeneIds (GRCh37): ENSG00000163626
OMIM: 610428, Gene2Phenotype
COX18 is in 7 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Esther Kinning (NHS Greater Glasgow and Clyde)

I don't know

one report of one patient presenting at birth with HCM and encephalopathy, could present prenatally but need more cases. On IEM and mito panels
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 25, OMIM:621487; neonatal hypertrophic cardiomyopathy; mitochondrial complex IV deficiency, nuclear-type, MONDO:0033885

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 25, OMIM:621487
  • neonatal hypertrophic cardiomyopathy
  • mitochondrial complex IV deficiency, nuclear-type, MONDO:0033885
OMIM
610428
Clinvar variants
Variants in COX18
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: COX18 was added gene: COX18 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: COX18 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX18 were set to 37468577 Phenotypes for gene: COX18 were set to Mitochondrial complex IV deficiency, nuclear type 25, OMIM:621487; neonatal hypertrophic cardiomyopathy; mitochondrial complex IV deficiency, nuclear-type, MONDO:0033885