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Fetal anomalies

Gene: UQCRQ

Red List (low evidence)

UQCRQ (ubiquinol-cytochrome c reductase complex III subunit VII)
EnsemblGeneIds (GRCh38): ENSG00000164405
EnsemblGeneIds (GRCh37): ENSG00000164405
OMIM: 612080, Gene2Phenotype
UQCRQ is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Post-natal onset.
Created: 19 Jan 2022, 7:32 a.m. | Last Modified: 19 Jan 2022, 7:32 a.m.
Panel Version: 0.2443

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 4, MIM #615159

Chirag Patel (Genetic Health Queensland)

I don't know

Comment on list classification: r/v with Z.Stark - one family and no reports >10 years.
Created: 5 Dec 2019, 3:37 a.m. | Last Modified: 5 Dec 2019, 3:37 a.m.
Panel Version: 0.471
Mitochondrial disorder with ID.
Barel et al. (2008) reported a large consanguineous Israeli Bedouin kindred in which 25 individuals had an autosomal recessive syndrome comprising severe psychomotor retardation and extrapyramidal signs, and a homozygous mutation.
Created: 4 Dec 2019, 11:09 p.m. | Last Modified: 4 Dec 2019, 11:09 p.m.
Panel Version: 0.374

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 4; OMIM #615159

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 4, MIM #615159
OMIM
612080
Clinvar variants
Variants in UQCRQ
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uqcrq has been classified as Red List (Low Evidence).

19 Jan 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UQCRQ were changed from MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED to Mitochondrial complex III deficiency, nuclear type 4, MIM #615159

19 Jan 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UQCRQ were set to

19 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uqcrq has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UQCRQ was added gene: UQCRQ was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRQ were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED