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Adult onset neurodegenerative disorder

Gene: UCHL1

Red List (low evidence)
UCHL1 (ubiquitin C-terminal hydrolase L1)
EnsemblGeneIds (GRCh38): ENSG00000154277
EnsemblGeneIds (GRCh37): ENSG00000154277
OMIM: 191342, Gene2Phenotype
UCHL1 is in 10 panels

0 reviews

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • {?Parkinson disease 5, susceptibility to}, OMIM:613643
  • Parkinson disease 5, autosomal dominant, susceptibility to, MONDO:0013340
  • Spastic paraplegia 79B, autosomal recessive, OMIM:615491
  • early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209
  • Spastic paraplegia 79A, autosomal dominant, OMIM:620221
OMIM
191342
Clinvar variants
Variants in UCHL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2023, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: UCHL1 were changed from {?Parkinson disease 5, susceptibility to}, OMIM:613643; Parkinson disease 5, autosomal dominant, susceptibility to, MONDO:0013340; Spastic paraplegia 79, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209; Spastic paraplegia 79A, autosomal dominant, OMIM:620221 to {?Parkinson disease 5, susceptibility to}, OMIM:613643; Parkinson disease 5, autosomal dominant, susceptibility to, MONDO:0013340; Spastic paraplegia 79B, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209; Spastic paraplegia 79A, autosomal dominant, OMIM:620221

28 Jul 2023, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: UCHL1 were changed from ?{Parkinson disease 5, susceptibility to}; Early onset ataxia and optic neuropathy to {?Parkinson disease 5, susceptibility to}, OMIM:613643; Parkinson disease 5, autosomal dominant, susceptibility to, MONDO:0013340; Spastic paraplegia 79, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209; Spastic paraplegia 79A, autosomal dominant, OMIM:620221

28 Jul 2023, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: UCHL1 were set to PMID: 23359680

25 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

18 Dec 2018, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes Early onset ataxia and optic neuropathy for gene: UCHL1

18 Dec 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: UCHL1 was added gene: UCHL1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: UCHL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: UCHL1 were set to PMID: 23359680 Phenotypes for gene: UCHL1 were set to ?{Parkinson disease 5, susceptibility to}