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  3. UQCRQ
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Callosome

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Very large single family where homozygous variant in this gene segregated with phenotype in 25 individuals; corpus callosum abnormalities are not a particular feature.
Created: 18 Mar 2020, 3:42 a.m. | Last Modified: 18 Mar 2020, 3:42 a.m.
Panel Version: 0.109

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 18 Mar 2020, 3:42 a.m.
Last Modified: 18 Mar 2020, 3:42 a.m.
Panel version: 0.109

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
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

18 Mar 2020, 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).

18 Mar 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UQCRQ were changed from to Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159

18 Mar 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UQCRQ were set to

18 Mar 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Mar 2020, 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).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UQCRQ was added gene: UQCRQ was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: UQCRQ was set to Unknown