Rare multisystem ciliopathy disorders
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
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: SCA not included in this gene panel. Gene involved in growth of cilia thoughCreated: 25 Jan 2017, 9:51 a.m.
Details
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Spinocerebellar ataxia 11, 604432
- OMIM
- 611695
- Clinvar variants
- Variants in TTBK2
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia
History Filter Activity
26 Jan 2017, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
25 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
25 Nov 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TTBK2 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
25 Nov 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TTBK2 was created by ellenmcdonagh