Mitochondrial disease
Gene: COX18EnsemblGeneIds (GRCh38): ENSG00000163626
EnsemblGeneIds (GRCh37): ENSG00000163626
OMIM: 610428, Gene2Phenotype
COX18 is in 2 panels
1 review
Naomi Baker (Victorian Clinical Genetics Services)
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: LiteratureCreated: 3 Aug 2023, 2:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial disease (MONDO:0044970), COX18-related
Publications
- PMID:37468577
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
-
- PMID:37468577
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: cox18 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: cox18 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: cox18 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: cox18 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: cox18 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: cox18 has been removed from the panel.
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 Mitochondrial disease. 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