UCHL1

ubiquitin C-terminal hydrolase L1
OMIM: 191342
PanelMode of inheritanceDetails
5 panels
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
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
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
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
R-numbers: R41
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 79, autosomal recessive, 615491