Genomics England
GMS Panels
Panels
Genes and Entities

UCHL1

ubiquitin C-terminal hydrolase L1
OMIM: 191342
PanelMode of inheritanceDetails
3 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 4.40
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 4.28
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