CWF19L1 gene related symptoms and diseases
All the information presented here about the CWF19L1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CWF19L1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Horizontal nystagmus | Very Common - Between 80% and 100% cases |
| Abnormal cerebellum morphology | Very Common - Between 80% and 100% cases |
| Apraxia | Very Common - Between 80% and 100% cases |
| Intention tremor | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CWF19L1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Cerebellar vermis hypoplasia
- Clumsiness
- Frequent falls
- Truncal ataxia
- Hemivertebrae
- Falls
- Oculomotor apraxia
- Infantile muscular hypotonia
And 26 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CWF19L1 gene
Here you will find a list of rare diseases related to the CWF19L1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY
Alternate names
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY Is also known as scar17, spinocerebellar ataxia autosomal recessive type 17
Description
Autosomal recessive spinocerebellar ataxia-17 is a neurologic disorder characterized by onset of gait ataxia and cerebellar signs in early childhood. Patients also have variable intellectual disability (summary by Evers et al., 2016).
Most common symptoms of AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Ataxia
More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY
Search interest in CWF19L1
Potential gene panels for CWF19L1 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.
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.
Spinocerebellar ataxia type 17, autosomal recessive Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CWF19L1 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 recessive and X-linked Panel Panel
Germany.
By CeGaT GmbH Ataxia, autosomal recessive and X-linked Panel that also includes the following genes: SACS SLC9A1 SPG7 SPTBN2 STUB1 TTPA WWOX ATP8A2 CA8 SNX14
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.
CWF19L1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CWF19L1 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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