Mitochondrial disease
Gene: UQCRC2

UQCRC2 (ubiquinol-cytochrome c reductase core protein 2)
EnsemblGeneIds (GRCh38): ENSG00000140740
EnsemblGeneIds (GRCh37): ENSG00000140740
OMIM: 191329, Gene2Phenotype
UQCRC2 is in 5 panels

2 reviews

John Christodoulou (Murdoch Children's Research Institute)

Green List (high evidence)

homozygous novel variant (p.Gly222Ala) reported. Functional studies showed impaired fibroblast respiratory chain function, western abnormalities, and altered mitochondrial ultrastructural abnormalities and of the mitochondrial network. Expression of a wild type vector in patient fibroblasts led to some restoration of function, but that part of the work was not stellar.

Overall, I think the functional evidence of pathogenicity is quite strong.
Created: 20 Jan 2022, 11:04 p.m. | Last Modified: 20 Jan 2022, 11:04 p.m.

Panel Version: 0.685

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
motor delay; developmental delay; symmetric necrotic lesions in the brain stem suggesting Leigh-like syndrome; strabismus; cerebellar signs; lactic academia

Publications

33865955

Created: 20 Jan 2022, 11:04 p.m.
Last Modified: 20 Jan 2022, 11:04 p.m.
Panel version: 0.685

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families with same homozygous variant, R183W.
Created: 18 Mar 2020, 3:29 a.m. | Last Modified: 18 Mar 2020, 3:29 a.m.

Panel Version: 0.186

Phenotypes
Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160

Publications

Created: 18 Mar 2020, 3:29 a.m.
Last Modified: 18 Mar 2020, 3:29 a.m.
Panel version: 0.186

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 5, MIM# 615160

OMIM

191329

Clinvar variants

Variants in UQCRC2

Penetrance

None

Publications

Panels with this gene