Genomics England
GMS Panels
Panels
Genes and Entities

SPAST

spastin
OMIM: 604277
PanelMode of inheritanceDetails
5 panels
Green
in Adult onset hereditary spastic paraplegia
R-numbers: R60
Signed-off version 5.5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 4, autosomal dominant, OMIM:182601, hereditary spastic paraplegia 4, MONDO:0008438
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 7.10
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 4, autosomal dominant, OMIM:182601, hereditary spastic paraplegia 4, MONDO:0008438
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 7.7
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 4, autosomal dominant, OMIM:182601, hereditary spastic paraplegia 4, MONDO:0008438
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SPAST-related developmental disorder (monoallelic)
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.163
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 4, autosomal dominant, OMIM:182601, hereditary spastic paraplegia 4, MONDO:0008438