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  3. UQCC1
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Mitochondrial disorder with complex III deficiency

Gene: UQCC1

Red List (low evidence)
UQCC1 (ubiquinol-cytochrome c reductase complex assembly factor 1)
EnsemblGeneIds (GRCh38): ENSG00000101019
EnsemblGeneIds (GRCh37): ENSG00000101019
OMIM: 611797, Gene2Phenotype
UQCC1 is in 3 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Demoting to Red as there is no evidence for Mendelian gene-disease association at this time
Created: 29 Jul 2022, 1:02 p.m. | Last Modified: 29 Jul 2022, 1:02 p.m.
Panel Version: 1.5
Created: 29 Jul 2022, 1:02 p.m.
Last Modified: 29 Jul 2022, 1:02 p.m.
Panel version: 1.5

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Created: 10 May 2019, 10:53 a.m.
Created: 10 May 2019, 10:53 a.m.

Panel version: 0.16

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: no reports of human disease; complex III assembly factor
Created: 10 May 2019, 10:51 a.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

Publications

  • none found

Created: 10 May 2019, 10:51 a.m.

Panel version: 0.16

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: UGCC1; Suggested intial gene rating: Green.
Created: 1 Feb 2019, 4:33 p.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

Created: 1 Feb 2019, 4:33 p.m.

Panel version: 0.3

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • No OMIM phenotype
OMIM
611797
Clinvar variants
Variants in UQCC1
Penetrance
None
Panels with this gene

History Filter Activity

29 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: uqcc1 has been classified as Red List (Low Evidence).

10 May 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: uqcc1 has been classified as Amber List (Moderate Evidence).

25 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Gene: uqcc1 has been classified as Amber List (Moderate Evidence).

1 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: UQCC1 was added gene: UQCC1 was added to Mitochondrial disorder with complex III deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: UQCC1 was set to Unknown Phenotypes for gene: UQCC1 were set to No OMIM phenotype