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Ataxia - adult onset

Gene: TTBK2

Green List (high evidence)
TTBK2 (tau tubulin kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000128881
EnsemblGeneIds (GRCh37): ENSG00000128881
OMIM: 611695, Gene2Phenotype
TTBK2 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sufficient number of unrelated families for Green rating, reviewed in PMID 20301723.
Created: 31 Mar 2022, 7:28 a.m. | Last Modified: 31 Mar 2022, 7:28 a.m.
Panel Version: 0.12346

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 11, MIM# 604432, MONDO:0011464

Publications

Created: 31 Mar 2022, 7:28 a.m.
Last Modified: 31 Mar 2022, 7:28 a.m.
Panel version: Imported from Mendeliome panel version 0.12346

Manny Jacobs (Victorian Clinical Genetics Services)

I don't know

Spinocerebellar ataxia type 11 (SCA11) is characterized by progressive cerebellar ataxia and abnormal eye signs (jerky pursuit, horizontal and vertical nystagmus). Pyramidal features are seen on occasion. Peripheral neuropathy and dystonia are rare. Six families have been reported to date, one each from the UK, Pakistan, France, Germany, Denmark, and China. Age of onset ranged from early childhood to the mid-40s. Life span is thought to be normal.

Lindquist et al., (2017) report a family with a novel TTBK2 variant causing childhood onset
Created: 31 Mar 2022, 12:51 a.m. | Last Modified: 31 Mar 2022, 12:51 a.m.
Panel Version: 0.12323

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 11, MIM# 604432, MONDO:0011464

Publications

Created: 31 Mar 2022, 12:51 a.m.
Last Modified: 31 Mar 2022, 12:51 a.m.
Panel version: Imported from Mendeliome panel version 0.12323

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 11, 604432
  • Spinocerebellar ataxia 11
OMIM
611695
Clinvar variants
Variants in TTBK2
Penetrance
None
Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: TTBK2 was added gene: TTBK2 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: TTBK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TTBK2 were set to Spinocerebellar ataxia 11, 604432; Spinocerebellar ataxia 11