Genes in panel
STRs in panel
Prev Next

Inborn errors of metabolism

Gene: UQCRQ

Amber List (moderate 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

Sarah Leigh (Genomics England Curator)

Comment on list classification: Amber review collated by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: One variant reported in a consanguineous Israeli Bedouin kindred with Mitochondrial complex III deficiency, nuclear type 4 (615159)(PMID: 18439546).
Created: 4 Jun 2019, 3 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

single report in literature:

A consanguineous Israeli Bedouin kindred presented with an autosomal-recessive nonlethal phenotype of severe psychomotor retardation and extrapyramidal signs, dystonia, athetosis and ataxia, mild axial hypotonia, and marked global dementia with defects in verbal and expressive communication skills. Metabolic workup was normal except for mildly elevated blood lactate levels. Brain magnetic resonance imaging (MRI) showed increased density in the putamen, with decreased density and size of the caudate and lentiform nuclei.
Created: 3 Feb 2016, 5:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 4, 615159
OMIM
612080
Clinvar variants
Variants in UQCRQ
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jun 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: UQCRQ were changed from Mitochondrial complex III deficiency, nuclear type 4, 615159; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency to Mitochondrial complex III deficiency, nuclear type 4, 615159

4 Jun 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: UQCRQ were set to 27604308

4 Jun 2019, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to UQCRQ. Source London North GLH was added to UQCRQ.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Mitochondrial complex III deficiency, nuclear type 4, 615159; Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency for gene: UQCRQ

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: UQCRQ was added gene: UQCRQ was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UQCRQ were set to 27604308 Phenotypes for gene: UQCRQ were set to Mitochondrial complex III deficiency, nuclear type 4, 615159; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency