Genomics England

UCHL1

ubiquitin C-terminal hydrolase L1

OMIM: 191342

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Ataxia and cerebellar anomalies - childhood onset Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 9.22	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, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	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 Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 8.30	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 79B, autosomal recessive, OMIM:615491, Spastic paraplegia 79A, autosomal dominant, OMIM:620221
Green in Hereditary spastic paraplegia, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 6.13	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 spastic paraplegia, childhood onset R-numbers: R61 Signed-off version 9.7	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 6.46	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