Mitochondrial disease
Gene: COX20

COX20 (COX20, cytochrome c oxidase assembly factor)
EnsemblGeneIds (GRCh38): ENSG00000203667
EnsemblGeneIds (GRCh37): ENSG00000203667
OMIM: 614698, Gene2Phenotype
COX20 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five unrelated families reported (including two Turkish families segregating same homozygous variant, likely founder effect). Dysarthria, dystonia, ataxia, neuropathy are common. Cognitive impairment in 2.
Created: 25 Oct 2020, 8:58 a.m. | Last Modified: 25 Oct 2020, 8:58 a.m.

Panel Version: 0.528

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 11, MIM#619054

Publications

Created: 25 Oct 2020, 8:58 a.m.
Last Modified: 25 Oct 2020, 8:58 a.m.
Panel version: 0.528

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 11, MIM#619054

OMIM

614698

Clinvar variants

Variants in COX20

Penetrance

None

Publications

Panels with this gene