TUBB6 gene related symptoms and diseases

All the information presented here about the TUBB6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TUBB6 gene

Symptoms // Phenotype % Cases
Ptosis Very Common - Between 80% and 100% cases
Facial palsy Very Common - Between 80% and 100% cases
Bilateral ptosis Very Common - Between 80% and 100% cases
Hypomimic face Very Common - Between 80% and 100% cases
Velopharyngeal insufficiency Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TUBB6 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Nasal regurgitation
  • Bilateral facial palsy
  • Broad uvula
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Rare diseases associated to TUBB6 gene

Here you will find a list of rare diseases related to the TUBB6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION; FPVEPD


Most common symptoms of FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION; FPVEPD

  • Ptosis
  • Facial palsy
  • Bilateral ptosis
  • Hypomimic face
  • Velopharyngeal insufficiency


More info about FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION; FPVEPD

SOURCES: OMIM


Potential gene panels for TUBB6 gene

TUBB6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TUBB6 gene.

More info about this panel


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