SPAST

PanelMode of inheritanceDetails
4 panels
R-numbers: R60
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 4, autosomal dominant, OMIM:182601, hereditary spastic paraplegia 4, MONDO:0008438
R-numbers: R58
Signed-off version 5.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 4, autosomal dominant, OMIM:182601, hereditary spastic paraplegia 4, MONDO:0008438
R-numbers: R61
Signed-off version 5.3
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 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SPAST-related developmental disorder (monoallelic)