TUBB3 - Gene browser

TUBB3

tubulin beta 3 class III

HCNC Approved Symbol: TUBB3 (HGNC:20772)
Genomic Coordinates: 16:89,921,925 - 89,936,097 (16q24.3)
Synonyms: beta-4, CFEOM3, CFEOM3A, FEOM3
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

11Patients

In total, 11 patients were diagnosed with a variant in the TUBB3 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

011
Patient count

Seizures: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Ptosis: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Strabismus: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Cfeom: 1 (9.1%)
Patient Count: 1 (9.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (9.1%)
Abnormality of the corpus callosum: 1 (9.1%)
Patient Count: 1 (9.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (9.1%)