Genomics England
GMS Panels
Panels
Genes and Entities

CAPN1

calpain 1
OMIM: 114220
PanelMode of inheritanceDetails
4 panels
Green
in Adult onset hereditary spastic paraplegia
R-numbers: R60
Signed-off version 5.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 76 autosomal recessive, 616907
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 7.7
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 7.11
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia type 76, 616907
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.163
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
autosomal recessive spastic paraplegia type 76, MONDO:0014827, Spastic paraplegia 76, autosomal recessive, OMIM:616907