Genomics England
GMS Panels
Panels
Genes and Entities

PPP2R2B_CAG

protein phosphatase 2 regulatory subunit Bbeta
OMIM: 604325
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 12, OMIM:604326
Green
in Adult onset hereditary spastic paraplegia
R-numbers: R60
Signed-off version 3.14
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 12, OMIM:604326
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 12, OMIM:604326