EEF2 gene related symptoms and diseases
All the information presented here about the EEF2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to EEF2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Neuronal loss in central nervous system | Very Common - Between 80% and 100% cases |
| Impaired horizontal smooth pursuit | Very Common - Between 80% and 100% cases |
| Abnormality of ocular smooth pursuit | Very Common - Between 80% and 100% cases |
| Dysmetric saccades | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with EEF2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Progressive gait ataxia
- Incoordination
- Truncal ataxia
- Fasciculations
- Limb ataxia
- Sensory impairment
- Ataxia
- Progressive cerebellar ataxia
And 8 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to EEF2 gene
Here you will find a list of rare diseases related to the EEF2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SPINOCEREBELLAR ATAXIA TYPE 26
Alternate names
SPINOCEREBELLAR ATAXIA TYPE 26 Is also known as sca26
Description
Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.
Most common symptoms of SPINOCEREBELLAR ATAXIA TYPE 26
- Seizures
- Ataxia
- Nystagmus
- Dysarthria
- Cerebellar atrophy
More info about SPINOCEREBELLAR ATAXIA TYPE 26
Search interest in EEF2
Potential gene panels for EEF2 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.
Spinocerebellar ataxia 26 (SCA26, sequence analysis of EEF2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the EEF2 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.
Spinocerebellar ataxia type 26, autosomal dominant Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the EEF2 gene.
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.
EEF2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EEF2 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 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.
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