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Mitochondrial disease

Gene: UQCC3

Amber List (moderate evidence)
UQCC3 (ubiquinol-cytochrome c reductase complex assembly factor 3)
EnsemblGeneIds (GRCh38): ENSG00000204922
EnsemblGeneIds (GRCh37): ENSG00000204922
OMIM: 616097, Gene2Phenotype
UQCC3 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families reported, some functional data.
Created: 18 Mar 2020, 3:23 a.m. | Last Modified: 18 Mar 2020, 3:23 a.m.
Panel Version: 0.182

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 9, MIM# 616111

Publications

Created: 18 Mar 2020, 3:23 a.m.
Last Modified: 18 Mar 2020, 3:23 a.m.
Panel version: 0.182

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 9, MIM# 616111
OMIM
616097
Clinvar variants
Variants in UQCC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uqcc3 has been classified as Amber List (Moderate Evidence).

18 Mar 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UQCC3 were changed from to Mitochondrial complex III deficiency, nuclear type 9, MIM# 616111

18 Mar 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UQCC3 were set to

18 Mar 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: UQCC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

18 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uqcc3 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UQCC3 was added gene: UQCC3 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: UQCC3 was set to Unknown