Mitochondrial disease
Gene: COX6B1

COX6B1 (cytochrome c oxidase subunit 6B1)
EnsemblGeneIds (GRCh38): ENSG00000126267
EnsemblGeneIds (GRCh37): ENSG00000126267
OMIM: 124089, Gene2Phenotype
COX6B1 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two unrelated families and supportive functional data. Presentation was with neurological regression in childhood in one family (PMID 18499082) and lactic acidosis, HCM and encephalopathy in infancy in the other (PMID 24781756).
Created: 25 Oct 2020, 1:54 a.m. | Last Modified: 25 Oct 2020, 1:54 a.m.

Panel Version: 0.523

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051

Publications

Created: 25 Oct 2020, 1:54 a.m.
Last Modified: 25 Oct 2020, 1:54 a.m.
Panel version: 0.523

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 7, MIM# 619051

OMIM

124089

Clinvar variants

Variants in COX6B1

Penetrance

None

Publications

Panels with this gene