FAT2 gene related symptoms and diseases

All the information presented here about the FAT2 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.

Top 5 symptoms and clinical features associated to FAT2 gene

Symptoms // Phenotype % Cases
Ataxia Very Common - Between 80% and 100% cases
Nystagmus Very Common - Between 80% and 100% cases
Dysarthria Very Common - Between 80% and 100% cases
Cerebellar atrophy Very Common - Between 80% and 100% cases
Gait ataxia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with FAT2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Limb ataxia
  • Cerebellar vermis atrophy
  • Downbeat nystagmus

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Rare diseases associated to FAT2 gene

Here you will find a list of rare diseases related to the FAT2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


Most common symptoms of SPINOCEREBELLAR ATAXIA 45; SCA45

  • Ataxia
  • Nystagmus
  • Dysarthria
  • Cerebellar atrophy
  • Gait ataxia



Potential gene panels for FAT2 gene

FAT2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FAT2 gene.

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CNOT3

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