Genomics England
GMS Panels
Panels
Genes and Entities

TBP_CAG

TATA-box binding protein
OMIM: 600075
PanelMode of inheritanceDetails
5 panels
Green
in Adult onset dystonia, chorea or related movement disorder
R-numbers: R56
Signed-off version 3.19
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 17, OMIM:607136, {Parkinson disease, susceptibility to}, OMIM:168600
Green
in Adult onset hereditary spastic paraplegia
R-numbers: R60
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 17, OMIM:607136
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 5.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 17, OMIM:607136, {Parkinson disease, susceptibility to}, OMIM:168600
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 17, OMIM:607136
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 17, OMIM:607136