Genomics England
GMS Panels
Panels
Genes and Entities

SPG21

SPG21, maspardin
OMIM: 608181
PanelMode of inheritanceDetails
4 panels
Green
in Adult onset hereditary spastic paraplegia
R-numbers: R60
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mast syndrome, 248900, Spastic Paraplegia, autosomal recessive
Green
in Adult onset leukodystrophy
R-numbers: R62
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mast syndrome, MIM# 248900
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 6.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic Paraplegia, Recessive
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 6.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic Paraplegia, Recessive, Mast syndrome, 248900