Tubulinopathies Overview

In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].


The purpose of this overview is to increase the clinician's awareness of the clinical phenotypes, genetic causes, and management of tubulinopathies, a wide, overlapping range of brain malformations caused by pathogenic variants of genes encoding different isotypes of tubulin.

The following are the goals of this overview.

Goal 1: Describe the clinical characteristics of tubulinopathies.

Goal 2: Review the genetic causes of tubulinopathies.

Goal 3: Review the differential diagnosis of tubulinopathies.

Goal 4: Provide an evaluation strategy to identify the genetic cause of a tubulinopathy in a proband (when possible).

Goal 5: Review general medical management of tubulinopathies.

Goal 6: Inform genetic counseling of family members of an individual with a tubulinopathy.

Publication types

  • Review