Genomics England
GMS Panels
Panels
Genes and Entities

SPAST

spastin
OMIM: 604277
PanelMode of inheritanceDetails
3 panels
Green
in Hereditary spastic paraplegia - adult onset
R-numbers: R60
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 4, autosomal dominant, 182601
Green
in Hereditary spastic paraplegia - childhood onset
R-numbers: R61
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 4, autosomal dominant, 182601
Green
in Neurodegenerative disorders - adult onset
R-numbers: R58
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 4, autosomal dominant, OMIM:182601