Intellectual disability syndromic and non-syndromic
Gene: COX15

COX15 (COX15, cytochrome c oxidase assembly homolog)
EnsemblGeneIds (GRCh38): ENSG00000014919
EnsemblGeneIds (GRCh37): ENSG00000014919
OMIM: 603646, Gene2Phenotype
COX15 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mitochondrial complex IV deficiency nuclear type 6 (MC4DN6) is an autosomal recessive multisystem metabolic disorder with a highly variable phenotype. Some patients present in the neonatal period with encephalomyopathic features, whereas others present later in the first year of life with developmental regression. Manifestations include hypotonia, feeding difficulties, and global developmental delay. Many, but not all, patients develop hypertrophic cardiomyopathy, which may result in early death. Additional more variable features may include poor overall growth, microcephaly, seizures, neurodegeneration, spasticity, visual defects, retinopathy, and hepatic steatosis. Brain imaging in some patients shows features consistent with Leigh syndrome.

More than 5 unrelated families reported.
Created: 31 Dec 2021, 4:48 a.m. | Last Modified: 31 Dec 2021, 4:48 a.m.

Panel Version: 0.4399

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119

Publications

Created: 31 Dec 2021, 4:48 a.m.
Last Modified: 31 Dec 2021, 4:48 a.m.
Panel version: 0.4399

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genetic Health Queensland

Phenotypes

Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119

OMIM

603646

Clinvar variants

Variants in COX15

Penetrance

None

Publications

Panels with this gene