Parkinson Disease and Complex Parkinsonism
Gene: UCHL1
UCHL1 (ubiquitin C-terminal hydrolase L1)
EnsemblGeneIds (GRCh38): ENSG00000154277
EnsemblGeneIds (GRCh37): ENSG00000154277
OMIM: 191342, Gene2Phenotype
UCHL1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000154277
EnsemblGeneIds (GRCh37): ENSG00000154277
OMIM: 191342, Gene2Phenotype
UCHL1 is in 10 panels
2 reviews
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
A monoallelic mutation initially identified in one PD family (9774100), but the findng has never been replicated.Created: 14 Dec 2016, 5:27 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: One family report, with incomplete penetrance - carry out literature search to see if any other evidence.Created: 3 Nov 2016, 6:14 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- {?Parkinson disease 5, susceptibility to}, OMIM:613643
- OMIM
- 191342
- Clinvar variants
- Variants in UCHL1
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset hereditary spastic paraplegia
- Hereditary ataxia with onset in adulthood
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Optic neuropathy
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
History Filter Activity
11 May 2021, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: UCHL1 were changed from ?{Parkinson disease 5, susceptibility to} to {?Parkinson disease 5, susceptibility to}, OMIM:613643
19 Dec 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)19th Dec 2016: panel revised according to expert review and further curation.
15 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
3 Nov 2016, Gel status: 1
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for UCHL1 were set to ?{Parkinson disease 5, susceptibility to}
3 Nov 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
19 Oct 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)UCHL1 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Illumina TruGenome Clinical Sequencing Services
19 Oct 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)UCHL1 was created by ellenmcdonagh