Mitochondrial disease
Gene: COX11
COX11 (COX11, cytochrome c oxidase copper chaperone)
EnsemblGeneIds (GRCh38): ENSG00000166260
EnsemblGeneIds (GRCh37): ENSG00000166260
OMIM: 603648, Gene2Phenotype
COX11 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000166260
EnsemblGeneIds (GRCh37): ENSG00000166260
OMIM: 603648, Gene2Phenotype
COX11 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
PMID: 36030551
- Biallelic variants in COX11 associated with infantile-onset mitochondrial encephalopathies in two unrelated consanguineous families, one with homozygous missense variant, another with homozygous frameshift variant.
- Functional studies supported pathogenicity of the missense variant, and showed that mutant COX11 fibroblasts had decreased ATP levels which could be rescued by CoQ10.
- RNA studies suggested the mutant transcript with p.(Val12Glyfs*21) is not degraded by nonsense mediated decay.
Sources: LiteratureCreated: 1 Sep 2022, 8:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial disease (MONDO:0044970), COX11-related
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Mitochondrial disease (MONDO:0044970), COX11-related
- OMIM
- 603648
- Clinvar variants
- Variants in COX11
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
1 Sep 2022, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cox11 has been classified as Green List (High Evidence).
1 Sep 2022, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cox11 has been classified as Green List (High Evidence).
1 Sep 2022, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: COX11 was added gene: COX11 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: COX11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX11 were set to 36030551 Phenotypes for gene: COX11 were set to Mitochondrial disease (MONDO:0044970), COX11-related Review for gene: COX11 was set to GREEN