Genomics England
GMS Panels
Panels
Genes and Entities

CAPN1

calpain 1
OMIM: 114220
PanelMode of inheritanceDetails
3 panels
Green
in Adult onset hereditary spastic paraplegia
R-numbers: R60
Signed-off version 3.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 76 autosomal recessive, 616907
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 76 autosomal recessive, 616907
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia type 76, 616907