Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: COX18

Red List (low evidence)

COX18 (COX18, cytochrome c oxidase assembly factor)
EnsemblGeneIds (GRCh38): ENSG00000163626
EnsemblGeneIds (GRCh37): ENSG00000163626
OMIM: 610428, Gene2Phenotype
COX18 is in 2 panels

1 review

Naomi Baker (Victorian Clinical Genetics Services)

Red List (low evidence)

Paper reports a single patient with a homozygous COX18 missense variant, with a neonatal form of mitochondrial hypertrophic cardiomyopathy, lactic acidosis, failure to thrive and neurological involvement associated with severe skeletal muscle COX deficiency. Functional studies demonstrated COX deficiency which could be partially rescued with over-expression of COX18.
Sources: Literature
Created: 3 Aug 2023, 2:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial disease (MONDO:0044970), COX18-related

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Mitochondrial disease (MONDO:0044970), COX18-related
OMIM
610428
Clinvar variants
Variants in COX18
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Aug 2023, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: cox18 has been classified as Red List (Low Evidence).

3 Aug 2023, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: cox18 has been classified as Red List (Low Evidence).

3 Aug 2023, Gel status: 0

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

Naomi Baker (Victorian Clinical Genetics Services)

gene: COX18 was added gene: COX18 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: COX18 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX18 were set to PMID:37468577 Phenotypes for gene: COX18 were set to Mitochondrial disease (MONDO:0044970), COX18-related Review for gene: COX18 was set to RED