Ataxia and cerebellar anomalies - narrow panel
Gene: TTBK2
TTBK2 (tau tubulin kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000128881
EnsemblGeneIds (GRCh37): ENSG00000128881
OMIM: 611695, Gene2Phenotype
TTBK2 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000128881
EnsemblGeneIds (GRCh37): ENSG00000128881
OMIM: 611695, Gene2Phenotype
TTBK2 is in 9 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Spinocerebellar ataxia 11
- OMIM
- 611695
- Clinvar variants
- Variants in TTBK2
- Penetrance
- None
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
- Hereditary ataxia
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary neuropathy
- Rare multisystem ciliopathy disorders
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TTBK2 was added gene: TTBK2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green 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