Mitochondrial disorder with complex III deficiency
Gene: UQCRC1
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
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.
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
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
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.
Publications for gene: UQCRC1 were set to 30788857; 33141179; 33779694; 33248804
Publications for gene: UQCRC1 were set to
Mode of inheritance for gene: UQCRC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: UQCRC1 were changed from No OMIM phenotype to Parkinsonism with polyneuropathy, OMIM:619279
Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).
Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).
Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).
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