Mitochondrial disease
Gene: COX10

COX10 (COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor)
EnsemblGeneIds (GRCh38): ENSG00000006695
EnsemblGeneIds (GRCh37): ENSG00000006695
OMIM: 602125, Gene2Phenotype
COX10 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated families reported.
Created: 24 Oct 2020, 9:07 p.m. | Last Modified: 24 Oct 2020, 9:07 p.m.

Panel Version: 0.517

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046

Publications

Created: 24 Oct 2020, 9:07 p.m.
Last Modified: 24 Oct 2020, 9:07 p.m.
Panel version: 0.517

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046

OMIM

602125

Clinvar variants

Variants in COX10

Penetrance

None

Publications

Panels with this gene