Hereditary neuropathy or pain disorder
Gene: UCHL1EnsemblGeneIds (GRCh38): ENSG00000154277
EnsemblGeneIds (GRCh37): ENSG00000154277
OMIM: 191342, Gene2Phenotype
UCHL1 is in 10 panels
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Sensorimotor neuropathy has been reported in both Spastic paraplegia 79A, autosomal dominant, OMIM:620221 and Spastic paraplegia 79B, autosomal recessive, OMIM:615491. Sufficient unrelated cases for both MOIs to promote to Green at the next GMS panel update.Created: 25 Oct 2024, 11:35 a.m. | Last Modified: 25 Oct 2024, 11:35 a.m.
Panel Version: 5.83
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Spastic paraplegia 79B, autosomal recessive, OMIM:615491
- Spastic paraplegia 79A, autosomal dominant, OMIM:620221
- OMIM
- 191342
- Clinvar variants
- Variants in UCHL1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
- Ataxia and cerebellar anomalies - narrow panel
- Optic neuropathy
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: UCHL1. Tag Q3_24_NHS_review was removed from gene: UCHL1.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to UCHL1. Source Expert Review Green was added to UCHL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: UCHL1 were set to 35986737
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: uchl1 has been classified as Amber List (Moderate Evidence).
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: UCHL1. Tag Q3_24_NHS_review tag was added to gene: UCHL1.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: UCHL1 were changed from spasticity; ataxia; peripheral neuropathy to Spastic paraplegia 79B, autosomal recessive, OMIM:615491; Spastic paraplegia 79A, autosomal dominant, OMIM:620221
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Alexander Rossor (UCL Institute of Neurology)gene: UCHL1 was added gene: UCHL1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: UCHL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: UCHL1 were set to 35986737 Phenotypes for gene: UCHL1 were set to spasticity; ataxia; peripheral neuropathy Penetrance for gene: UCHL1 were set to Complete