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Intellectual disability

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

4 reviews

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED

Publications

  • 0

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

PMID:18439546 (2008) report a consanguineous Israeli Bedouin kindred with an AR phenotype of severe psychomotor retardation, and marked global defects in verbal and communication skills amongst other symptoms. Gene sequencing showed a single missense (p.Ser45Phe) mutation in UQCRQ. Further cases are required to support causation and include UQCRQ on a diagnostic-grade ID panel.
Created: 31 Oct 2017, 9:24 a.m.

Phenotypes
Mitochondrial complex III deficiency, nuclear type 4, 615159

Lu Raymond (university of cambridge )

I don't know

Richard Scott (Genomics England Curator)

Comment on list classification: Further evidence required before diagnostic
Created: 8 Feb 2016, 2:11 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 4, 615159
OMIM
612080
Clinvar variants
Variants in UQCRQ
Penetrance
Complete
Publications
  • 0
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

UQCRQ was added to Intellectual disabilitypanel. Sources: Expert Review Amber

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

UQCRQ was created by ellenmcdonagh