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Mitochondrial disease

Gene: COX16

Amber List (moderate evidence)

COX16 (COX16, cytochrome c oxidase assembly homolog)
EnsemblGeneIds (GRCh38): ENSG00000133983
EnsemblGeneIds (GRCh37): ENSG00000133983
COX16 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355

Bryony Thompson (Royal Melbourne Hospital)

I don't know

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: Literature
Created: 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

30 May 2021, Gel status: 2

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

30 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cox16 has been classified as Amber List (Moderate Evidence).

30 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cox16 has been classified as Amber List (Moderate Evidence).

30 Nov 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cox16 has been classified as Red List (Low Evidence).

30 Nov 2020, Gel status: 1

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