Mitochondrial disease
Gene: SCO1

SCO1 (SCO1, cytochrome c oxidase assembly protein)
EnsemblGeneIds (GRCh38): ENSG00000133028
EnsemblGeneIds (GRCh37): ENSG00000133028
OMIM: 603644, Gene2Phenotype
SCO1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated families reported, typically presenting with lactatic acidosis and encephalopathy in infancy. Two had hepatopathy and hypotonia, and one presented with intrauterine growth retardation and hypertrophic cardiomyopathy.
Created: 24 Oct 2020, 9:23 p.m. | Last Modified: 24 Oct 2020, 9:23 p.m.

Panel Version: 0.520

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048

Publications

Created: 24 Oct 2020, 9:23 p.m.
Last Modified: 24 Oct 2020, 9:23 p.m.
Panel version: 0.520

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 4, MIM# 619048

OMIM

603644

Clinvar variants

Variants in SCO1

Penetrance

None

Publications

Panels with this gene