Genomics England

UCHL1

ubiquitin C-terminal hydrolase L1

OMIM: 191342

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 4.4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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 in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 5.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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 in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 5.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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 in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 5.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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 in Optic neuropathy R-numbers: R41 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 79, autosomal recessive, 615491