Genomics England
GMS Panels
Panels
Genes and Entities

ATXN3_CAG

ataxin 3
OMIM: 607047
PanelMode of inheritanceDetails
3 panels
Green
in Adult onset dystonia, chorea or related movement disorder
R-numbers: R56
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Machado-Joseph disease, OMIM:109150
Green
in Adult onset hereditary spastic paraplegia
R-numbers: R60
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Machado-Joseph disease, OMIM:109150
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 6.7
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Machado-Joseph disease, OMIM:109150