TUBB3

tubulin beta 3 class III

2 disorders 2 causative 16q24.3 gene with protein product

HGNC:20772 Monarch NCBI Gene 10381 ENSG00000258947 UniProt Q13509 OMIM 602661

Previous symbols: FEOM3. Aliases: beta-4, CFEOM3, CFEOM3A.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Congenital Fibrosis of the Extraocular Muscles	causative germline	mechanism: Beta-Tubulin Microtubule Dysfunction in Cranial Motor Neurons subtype: CFEOM3A scoped to subtype: CFEOM3A
TUBB3-related Tubulinopathy	causative de novo dominant negative	mechanism: Altered Beta-III Tubulin (TUBB3) Function discussion: (unnamed)

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
TUBB3-related tubulinopathy MONDO:0100154	AD	Definitive 2022-09-08	TUBB3-related Tubulinopathy causative

Mechanism modules · computed from kb/

microtubule_dependent_neuronal_migration_failure via TUBB3-related Tubulinopathy named in the module itself

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.