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.
Table of contents:
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
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
Search interest in TUBB6
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 United States.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like POMGNT2 ADAMTS2 ABCB1