TMEM240 gene related symptoms and diseases
All the information presented here about the TMEM240 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TMEM240 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Akinesia | Very Common - Between 80% and 100% cases |
| Limb ataxia | Very Common - Between 80% and 100% cases |
| Diplopia | Very Common - Between 80% and 100% cases |
| Fasciculations | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TMEM240 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Apathy
- Postural tremor
- Impulsivity
- Resting tremor
- Abnormality of extrapyramidal motor function
- Cerebellar vermis atrophy
- Slow saccadic eye movements
- Cogwheel rigidity
And 23 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TMEM240 gene
Here you will find a list of rare diseases related to the TMEM240. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SPINOCEREBELLAR ATAXIA TYPE 21
Alternate names
SPINOCEREBELLAR ATAXIA TYPE 21 Is also known as sca21
Description
Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.
Most common symptoms of SPINOCEREBELLAR ATAXIA TYPE 21
- Intellectual disability
- Global developmental delay
- Ataxia
- Nystagmus
- Neoplasm
More info about SPINOCEREBELLAR ATAXIA TYPE 21
Search interest in TMEM240
Potential gene panels for TMEM240 gene
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.
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.
Spinocerebellar Ataxia 21 via TMEM240 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the TMEM240 gene.
More info about this panel United States.
Spinocerebellar ataxia type 21, autosomal dominant Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the TMEM240 gene.
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.
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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