Hereditary neuropathy or pain disorder
Gene: UQCRC1EnsemblGeneIds (GRCh38): ENSG00000010256
EnsemblGeneIds (GRCh37): ENSG00000010256
OMIM: 191328, Gene2Phenotype
UQCRC1 is in 6 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Rating Amber based on current evidence - three unrelated individuals with Parkinson's disease and heterozygous variants identified by one group (PMID: 33141179) but results have failed to be replicated in large European and Chinese cohorts (PMIDs: 33779694; 33248804).
This matches the latest classification on other GMS panels. Furthermore, polyneuropathy was only confirmed in 1/3 families. Knock-in mice with the affected family variant did exhibit significant reductions in distal CMAP amplitudes compared to WT littermates at 12 months (but not 9 months), as well as a slightly reduced conduction velocity but preserved distal motor latency. Peripheral nerve fibre morphology showed decrease in the diameter of myelinated nerve fibres.Created: 25 Oct 2024, 11:20 a.m. | Last Modified: 25 Oct 2024, 11:20 a.m.
Panel Version: 5.81
Alexander Rossor (UCL Institute of Neurology)
Sources: Expert listCreated: 19 Oct 2024, 11:37 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
parkinsonism; peripheral neuropathy
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Parkinsonism with polyneuropathy, OMIM:619279
- OMIM
- 191328
- Clinvar variants
- Variants in UQCRC1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: UQCRC1 were changed from parkinsonism; peripheral neuropathy to Parkinsonism with polyneuropathy, OMIM:619279
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Alexander Rossor (UCL Institute of Neurology)gene: UQCRC1 was added gene: UQCRC1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: UQCRC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UQCRC1 were set to 33141179 Phenotypes for gene: UQCRC1 were set to parkinsonism; peripheral neuropathy Penetrance for gene: UQCRC1 were set to Complete Review for gene: UQCRC1 was set to GREEN