UCHL1

ubiquitin C-terminal hydrolase L1
OMIM: 191342, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 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 4.64 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	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 Tags Q3_23_MOI
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 4.43 Latest signed off version: v4.0 (22 Mar 2023)	review	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 Tags Q3_23_MOI
Amber UCHL1 in Adult onset hereditary spastic paraplegia Version 3.21 Latest signed off version: v3.14 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber 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 Tags Q3_23_promote_green Q3_23_MOI
Red UCHL1 in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	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
Amber UCHL1 in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber 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 Tags Q3_23_promote_green Q3_23_MOI
Amber UCHL1 in Adult onset dystonia, chorea or related movement disorder Version 3.18 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