Hereditary ataxia
Gene: TTBK2Comment when marking as ready: Good evidence from OMIM and expert reviewCreated: 2 Feb 2016, 10:06 a.m.
Fine. Good evidence in lit, positive in our cohort. Mode of inheritance/pathogenicity: loss-of-function/Haploinsufficiency.Created: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spinocerebellar ataxia 11
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene TTBK2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TTBK2 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Model of inheritance for gene TTBK2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TTBK2 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
TTBK2 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN