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Mitochondrial disease

Gene: UQCRC2

Green List (high evidence)

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

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

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

History Filter Activity

23 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UQCRC2 were set to 28275242; 23281071

23 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: UQCRC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

23 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uqcrc2 has been classified as Green List (High Evidence).

18 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).

18 Mar 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UQCRC2 were changed from to Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160

18 Mar 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UQCRC2 were set to

18 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UQCRC2 was added gene: UQCRC2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: UQCRC2 was set to Unknown