TTBK2 gene related symptoms and diseases
All the information presented here about the TTBK2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TTBK2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Progressive cerebellar ataxia | Very Common - Between 80% and 100% cases |
| Dysarthria | Very Common - Between 80% and 100% cases |
| Peripheral neuropathy | Uncommon - Between 30% and 50% cases |
| Dysphagia | Uncommon - Between 30% and 50% cases |
| Dystonia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with TTBK2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Difficulty walking
- Abnormal pyramidal sign
- Horizontal nystagmus
- Gait imbalance
- Vertical nystagmus
- Jerky ocular pursuit movements
- Ataxia
- Nystagmus
And 3 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TTBK2 gene
Here you will find a list of rare diseases related to the TTBK2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SPINOCEREBELLAR ATAXIA TYPE 11
Alternate names
SPINOCEREBELLAR ATAXIA TYPE 11 Is also known as sca11
Description
Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs.
Most common symptoms of SPINOCEREBELLAR ATAXIA TYPE 11
- Peripheral neuropathy
- Dysarthria
- Dysphagia
- Dystonia
- Difficulty walking
More info about SPINOCEREBELLAR ATAXIA TYPE 11
SOURCES: ORPHANET
SPINOCEREBELLAR ATAXIA 11; SCA11
Most common symptoms of SPINOCEREBELLAR ATAXIA 11; SCA11
- Ataxia
- Nystagmus
- Hyperreflexia
- Dysarthria
- Cerebellar atrophy
More info about SPINOCEREBELLAR ATAXIA 11; SCA11
SOURCES: OMIM
Search interest in TTBK2
Potential gene panels for TTBK2 gene
Ataxia, Comprehensive Evaluation Panel
United States.
By Athena Diagnostics Inc Ataxia, Comprehensive Evaluation that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SLC1A3 SPTBN2 TBP TTPA
More info about this panel United States.
Ataxia, Supplemental Dominant Evaluation Panel
United States.
By Athena Diagnostics Inc Ataxia, Supplemental Dominant Evaluation that also includes the following genes: SLC1A3 SPTBN2 VAMP1 CACNA1A CACNB4 TGM6 TTBK2 AFG3L2 EEF2 FGF14
More info about this panel United States.
Ataxia, Complete Dominant Evaluation Panel
United States.
By Athena Diagnostics Inc Ataxia, Complete Dominant Evaluation that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SLC1A3 SPTBN2 TBP VAMP1 CACNA1A
More info about this panel United States.
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
TTBK2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the TTBK2 gene.
More info about this panel Spain.
TTBK2. Detection of the mutations c.1329dupA and c.1284_1285delAG by sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the TTBK2 gene.
More info about this panel Spain.
Spinocerebellar ataxia 11 (SCA11, sequence analysis of TTBK2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the TTBK2 gene.
More info about this panel Portugal.
Hereditary ataxias (NGS panel for 44 genes) Panel
Portugal.
By CGC Genetics Hereditary ataxias (NGS panel for 44 genes) that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA VAMP1 VLDLR CACNA1A CACNB4 ELOVL4 ABHD12
More info about this panel Portugal.
Neurogenetic Disorders - panels Panel
Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Ataxia and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1
More info about this panel Germany.
Ataxia, autosomal dominant and X-linked Panel Panel
Germany.
By CeGaT GmbH Ataxia, autosomal dominant and X-linked Panel that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 SLC1A3 SPG7 SPTBN2 TBP VAMP1 VLDLR
More info about this panel Germany.
Spinocerebellar Ataxia Panel
Estonia.
By Asper Biogene Asper Biogene LLC Spinocerebellar Ataxia that also includes the following genes: SACS SLC9A1 SLC9A6 SPTBN2 STUB1 TWNK ACO2 TTPA WFS1 WWOX
More info about this panel Estonia.
Spinocerebellar Ataxia 11 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the TTBK2 gene.
More info about this panel Austria.
Spinocerebellar Ataxia 11 Panel
Slovakia.
By MedGene
This panel specifically test the TTBK2 gene.
More info about this panel Slovakia.
Spinocerebellar ataxia type 11 (SCA 11): TTBK2 gene mutation analysis (p.R444ThrfsX7, p.Glu429AspfsX21) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the TTBK2 gene.
More info about this panel Spain.
Spinocerebellar ataxia Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spinocerebellar ataxia that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 SLC1A3 SPTBN2 TBP TTPA VLDLR
More info about this panel Spain.
Ataxia Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Ataxia that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA CACNA1A CACNB4 APTX TGM6 COQ8A SYNE1
More info about this panel Spain.
Hereditary Neuropathies: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Sequencing Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panel United States.
Hereditary Neuropathies: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Deletion/Duplication Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panel United States.
TTBK2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TTBK2 gene.
More info about this panel United States.
Ataxia Panel Panel
Finland.
By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2
More info about this panel Finland.
Spinocerebellar ataxia type 11 Panel
Spain.
By Bioarray
This panel specifically test the TTBK2 gene.
More info about this panel Spain.
SPINOCEREBELLAR ATAXIA (AUTOSOMAL DOMINANT) (SCAs) Panel
Spain.
By Laboratorio de Genetica Clinica SL SPINOCEREBELLAR ATAXIA (AUTOSOMAL DOMINANT) (SCAs) that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SPTBN2 TBP CACNA1A NOP56 TGM6
More info about this panel Spain.
SPINOCEREBELLAR ATAXIA NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL SPINOCEREBELLAR ATAXIA NGS PANEL that also includes the following genes: SPTBN2 STUB1 TWNK TTPA WWOX CA8 CACNA1A CACNA1G ELOVL4 APTX
More info about this panel Spain.
Spinocerebellar ataxia panel Panel
Canada.
By LifeLabs Genetics Spinocerebellar ataxia panel that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SPTBN2 TBP VAMP1 CACNA1A NOP56
More info about this panel Canada.
Spinocerebellar Ataxia Type 11 , Sequencing TTBK2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the TTBK2 gene.
More info about this panel Spain.
Spinocerebellar Ataxia Type 11, Screening Mutations TTBK2 Gene (SCA11) Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the TTBK2 gene.
More info about this panel Spain.
Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes Panel
Spain.
By Reference Laboratory Genetics Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 SPTBN2 TBP TTPA VLDLR CACNA1A
More info about this panel Spain.
Spinocerebellar Ataxia Type 11: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the TTBK2 gene.
More info about this panel Canada.
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