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Intellectual disability syndromic and non-syndromic

Gene: COX11

Green List (high evidence)

COX11 (COX11, cytochrome c oxidase copper chaperone)
EnsemblGeneIds (GRCh38): ENSG00000166260
EnsemblGeneIds (GRCh37): ENSG00000166260
OMIM: 603648, Gene2Phenotype
COX11 is in 4 panels

1 review

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

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: Literature
Created: 1 Sep 2022, 7:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial disease (MONDO:0044970), COX11-related

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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: 0

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

Chern Lim (Victorian Clinical Genetics Services)

gene: COX11 was added gene: COX11 was added to Intellectual disability syndromic and non-syndromic. 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 gene: COX11 was marked as current diagnostic