Genomics England
GMS Panels
Panels
Genes and Entities

CACNA1A_CAG

calcium voltage-gated channel subunit alpha1 A
OMIM: 601011
PanelMode of inheritanceDetails
3 panels
Green
in Adult onset dystonia, chorea or related movement disorder
R-numbers: R56
Signed-off version 3.12
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 6, OMIM:183086
Green
in Adult onset hereditary spastic paraplegia
R-numbers: R60
Signed-off version 3.14
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 6, OMIM:183086
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 6, OMIM:183086