Genomics England
GMS Panels
Panels
Genes and Entities

TTBK2

tau tubulin kinase 2
OMIM: 611695
PanelMode of inheritanceDetails
2 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spinocerebellar ataxia 11
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spinocerebellar ataxia 11, 604432, Spinocerebellar ataxia 11