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Intellectual disability syndromic and non-syndromic

Gene: UQCRB

Red List (low evidence)

UQCRB (ubiquinol-cytochrome c reductase binding protein)
EnsemblGeneIds (GRCh38): ENSG00000156467
EnsemblGeneIds (GRCh37): ENSG00000156467
OMIM: 191330, Gene2Phenotype
UQCRB is in 9 panels

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

No ID reported in the one case with this mitochondrial disorder.
BUT ID reported in the 2nd case with this mitochondrial disorder.
Created: 4 Dec 2019, 11:18 p.m. | Last Modified: 4 Dec 2019, 11:18 p.m.
Panel Version: 0.378

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 3; OMIM #615158

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 3
  • OMIM #615158
OMIM
191330
Clinvar variants
Variants in UQCRB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

4 Dec 2019, Gel status: 3

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

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from UQCRB. Source Expert list was added to UQCRB. Mode of inheritance for gene UQCRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRB were changed from to Mitochondrial complex III deficiency, nuclear type 3; OMIM #615158 Publications for gene UQCRB were changed from PubMed: 12709789; 28604960 to PubMed: 12709789; 28604960

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UQCRB was added gene: UQCRB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UQCRB was set to Unknown