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  2. Genes
  3. RNF170

RNF170 gene related symptoms and diseases

All the information presented here about the RNF170 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to RNF170 gene

Symptoms // Phenotype % Cases
Ataxia Very Common - Between 80% and 100% cases
Abnormal cerebellum morphology Very Common - Between 80% and 100% cases
Distal sensory impairment of all modalities Very Common - Between 80% and 100% cases
Distal sensory loss of all modalities Very Common - Between 80% and 100% cases
Positive Romberg sign Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with RNF170 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Sensory ataxia
  • Peripheral demyelination
  • Neuronal loss in central nervous system
  • Gliosis
  • Distal sensory impairment
  • Dysarthria
  • Falls
  • Dysmetria

And 7 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to RNF170 gene

Here you will find a list of rare diseases related to the RNF170. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1

Alternate names

ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1 Is also known as adsa

Most common symptoms of ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1

  • Ataxia
  • Dysarthria
  • Gait disturbance
  • Dysphagia
  • Congestive heart failure


More info about ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1

SOURCES: OMIM


Potential gene panels for RNF170 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.

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.

RNF170 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RNF170 gene.

More info about this panel
United States.

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