Genomics England
GMS Panels
Panels
Genes and Entities

UCHL1

ubiquitin C-terminal hydrolase L1
OMIM: 191342
PanelMode of inheritanceDetails
2 panels
Green
in Hereditary spastic paraplegia - childhood onset
R-numbers: R61
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 79, autosomal recessive, OMIM:615491
Green
in Optic neuropathy
R-numbers: R41
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 79, autosomal recessive, 615491