Hereditary ataxia
Gene: TTBK2

TTBK2 (tau tubulin kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000128881
EnsemblGeneIds (GRCh37): ENSG00000128881
OMIM: 611695, Gene2Phenotype
TTBK2 is in 9 panels

2 reviews

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Good evidence from OMIM and expert review
Created: 2 Feb 2016, 10:06 a.m.

Created: 2 Feb 2016, 10:06 a.m.

Panel version: 0.3

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

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

Created: 24 Nov 2015, 4:57 p.m.

Panel version: 0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Spinocerebellar ataxia 11

OMIM

611695

Clinvar variants

Variants in TTBK2

Penetrance

Complete

Panels with this gene

History Filter Activity

2 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2015, Gel status: 3