Genomics England

TATA-box binding protein

Panel	Mode of inheritance	Details
Filter panels5 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 17, OMIM:607136, {Parkinson disease, susceptibility to}, OMIM:168600
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 3.21	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Spinocerebellar ataxia 17, OMIM:607136
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 4.41	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 3.56	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 4.26	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Spinocerebellar ataxia 17, OMIM:607136