TUBB4A - Gene browser

TUBB4A

tubulin beta 4A class IVa

HCNC Approved Symbol: TUBB4A (HGNC:20774)
Genomic Coordinates: 19:6,494,319 - 6,502,848 (19p13.3)
Synonyms: beta-5, TUBB4, DYT4
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

7Patients

In total, 7 patients were diagnosed with a variant in the TUBB4A gene.

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

07
Patient count

Cerebellar atrophy: 3 (42.9%)
Patient Count: 3 (42.9%)
% of total patients presenting each phenotype is shown in parentheses.
3 (42.9%)
Intellectual disability: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Neurodevelopmental regression: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Agenesis of corpus callosum: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)
Agenesis of the corpus callosum: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)