Mitochondrial disease
Gene: UQCRB

UQCRB (ubiquinol-cytochrome c reductase binding protein)
EnsemblGeneIds (GRCh38): ENSG00000156467
EnsemblGeneIds (GRCh37): ENSG00000156467
OMIM: 191330, Gene2Phenotype
UQCRB is in 9 panels

2 reviews

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

Three families, two had the same variant. Functional data.
Created: 21 Mar 2022, 4:57 a.m. | Last Modified: 21 Mar 2022, 4:57 a.m.

Panel Version: 0.11665

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 3, MIM# 615158

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 21 Mar 2022, 4:57 a.m.
Last Modified: 21 Mar 2022, 4:57 a.m.
Panel version: Imported from Mendeliome panel version 0.11665

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three families, two had the same variant. Functional data.
Created: 13 Apr 2020, 8:14 a.m. | Last Modified: 13 Apr 2020, 8:14 a.m.

Panel Version: 0.357

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 3, MIM# 615158

Publications

Created: 13 Apr 2020, 8:11 a.m.
Last Modified: 13 Apr 2020, 8:11 a.m.
Panel version: 0.357

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 III deficiency, nuclear type 3, MIM# 615158

OMIM

191330

Clinvar variants

Variants in UQCRB

Penetrance

None

Publications

Panels with this gene