UCHL1

ubiquitin C-terminal hydrolase L1
OMIM: 191342, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Red UCHL1 in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.121

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • {?Parkinson disease 5, susceptibility to}, OMIM:613643
Green UCHL1 in Ataxia and cerebellar anomalies - narrow panel


Version 5.6
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Spastic paraplegia 79B, autosomal recessive, OMIM:615491
    • early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209
    • Spastic paraplegia 79A, autosomal dominant, OMIM:620221
    Green UCHL1 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.332

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Spastic paraplegia 79B, autosomal recessive, OMIM:615491
    • early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209
    • Spastic paraplegia 79A, autosomal dominant, OMIM:620221
    Green UCHL1 in Optic neuropathy

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.30
    Latest signed off version: v4.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spastic paraplegia 79B, autosomal recessive, OMIM:615491
    • early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209
    • Spastic paraplegia 79A, autosomal dominant, OMIM:620221
    Tags
    • Q3_23_MOI
    Green UCHL1 in Childhood onset hereditary spastic paraplegia


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Yorkshire and North East GLH
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spastic paraplegia 79B, autosomal recessive, OMIM:615491
    • early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209
    • Spastic paraplegia 79A, autosomal dominant, OMIM:620221
    Green UCHL1 in Adult onset hereditary spastic paraplegia


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spastic paraplegia 79B, autosomal recessive, OMIM:615491
    • early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209
    • Spastic paraplegia 79A, autosomal dominant, OMIM:620221
    Red UCHL1 in Adult onset neurodegenerative disorder


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    review 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
    Green UCHL1 in Hereditary ataxia with onset in adulthood


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Wessex and West Midlands GLH
    • Hereditary ataxia v1.148
    Phenotypes
    • Spastic paraplegia 79B, autosomal recessive, OMIM:615491
    • early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209
    • Spastic paraplegia 79A, autosomal dominant, OMIM:620221
    Amber UCHL1 in Adult onset dystonia, chorea or related movement disorder


    Version 3.19
    Latest signed off version: v3.12 (31 Jul 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • South West GLH
    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
    Green UCHL1 in Severe Paediatric Disorders


    Version 1.184

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spastic paraplegia 79B, autosomal recessive, OMIM:615491
    • early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209
    • Spastic paraplegia 79A, autosomal dominant, OMIM:620221