Mitochondrial disease
Gene: COA6

COA6 (cytochrome c oxidase assembly factor 6)
EnsemblGeneIds (GRCh38): ENSG00000168275
EnsemblGeneIds (GRCh37): ENSG00000168275
OMIM: 614772, Gene2Phenotype
COA6 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two unrelated families and functional data.
Created: 30 Apr 2021, 10:04 a.m. | Last Modified: 30 Apr 2021, 10:04 a.m.

Panel Version: 0.612

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501; Cardioencephalomyopathy, fatal infantile, MONDO:0014668

Publications

Created: 30 Apr 2021, 10:04 a.m.
Last Modified: 30 Apr 2021, 10:04 a.m.
Panel version: 0.612

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 13, MIM# 616501
Cardioencephalomyopathy, fatal infantile, MONDO:0014668

OMIM

614772

Clinvar variants

Variants in COA6

Penetrance

None

Publications

Panels with this gene