Genomics England
GMS Panels
Panels
Genes and Entities

ATXN1_CAG

ataxin 1
OMIM: 601556
PanelMode of inheritanceDetails
4 panels
Green
in Adult onset dystonia, chorea or related movement disorder
R-numbers: R56
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 1, OMIM:164400
Green
in Adult onset hereditary spastic paraplegia
R-numbers: R60
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 1, OMIM:164400
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 1, OMIM:164400
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 1, OMIM:164400