Mitochondrial disease
Gene: COX16EnsemblGeneIds (GRCh38): ENSG00000133983
EnsemblGeneIds (GRCh37): ENSG00000133983
COX16 is in 2 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355
Bryony Thompson (Royal Melbourne Hospital)
2 unrelated patients with the same homozygous (non-consanguineous) nonsense variant c.244C>T (p.Arg82*), and isolated complex IV deficiency present in both patient fibroblasts/skeletal muscle biopsy. COX16 is involved in the biogenesis of complex IV, the terminal complex of the mitochondrial respiratory chain.
Sources: LiteratureCreated: 30 Nov 2020, 1:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypertrophic cardiomyopathy; encephalopathy; severe fatal lactic acidosis
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355
- Hypertrophic cardiomyopathy
- encephalopathy
- severe fatal lactic acidosis
- Clinvar variants
- Variants in COX16
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: COX16 were changed from Hypertrophic cardiomyopathy; encephalopathy; severe fatal lactic acidosis to Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355; Hypertrophic cardiomyopathy; encephalopathy; severe fatal lactic acidosis
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: cox16 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: cox16 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: cox16 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: COX16 was added gene: COX16 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: COX16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX16 were set to 33169484 Phenotypes for gene: COX16 were set to Hypertrophic cardiomyopathy; encephalopathy; severe fatal lactic acidosis Review for gene: COX16 was set to AMBER