Genomics England
GMS Panels
Panels
Genes and Entities

TBP_CAG

TATA-box binding protein
OMIM: 600075
PanelMode of inheritanceDetails
5 panels
Green
in Dystonia, chorea or related movement disorder, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 6.7
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 17, OMIM:607136, {Parkinson disease, susceptibility to}, OMIM:168600
Green
in Dystonia, chorea or related movement disorder, childhood onset
R-numbers: R57
Signed-off version 8.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 17, OMIM:607136
Green
in Hereditary ataxia, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 17, OMIM:607136
Green
in Hereditary spastic paraplegia, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 17, OMIM:607136
Green
in Neurodegenerative disorders, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 17, OMIM:607136, {Parkinson disease, susceptibility to}, OMIM:168600