Mitochondrial disorder with complex III deficiency
Gene: UQCRC1EnsemblGeneIds (GRCh38): ENSG00000010256
EnsemblGeneIds (GRCh37): ENSG00000010256
OMIM: 191328, Gene2Phenotype
UQCRC1 is in 6 panels
5 reviews
Arina Puzriakova (Genomics England Curator)
Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, supporting the Amber rating of this gene on this panel based on current evidence.Created: 30 Aug 2022, 9:31 a.m. | Last Modified: 30 Aug 2022, 9:31 a.m.
Panel Version: 1.8
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Parkinsonism with polyneuropathy, OMIM: 619279
Publications
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: 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, 11:04 a.m.
Carl Fratter (Oxford University Hospitals NHS Trust)
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One family reported (as part of DDD project)Created: 10 May 2019, 10:51 a.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
Publications
- none found
Ivone Leong (Genomics England Curator)
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: UQCRC1; Suggested intial gene rating: Green.Created: 1 Feb 2019, 4:33 p.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
Shamima Rahman (UCL Institute of Child Health)
no mutation reports in literature; good candidate gene for complex III deficiency (encodes a subunit of the enzyme)Created: 6 Feb 2016, 10:41 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- NHS GMS
- Phenotypes
-
- Parkinsonism with polyneuropathy, OMIM:619279
- OMIM
- 191328
- Clinvar variants
- Variants in UQCRC1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: UQCRC1 were set to 30788857; 33141179; 33779694; 33248804
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: UQCRC1 were set to
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: UQCRC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: UQCRC1 were changed from No OMIM phenotype to Parkinsonism with polyneuropathy, OMIM:619279
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: UQCRC1 was added gene: UQCRC1 was added to Mitochondrial disorder with complex III deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: UQCRC1 was set to Unknown Phenotypes for gene: UQCRC1 were set to No OMIM phenotype