TUBB4B-related ciliopathy
MONDO:1060115Mondo
Findings
No curated finding names TUBB4B-related ciliopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any ciliopathy in which the cause of the disease is a variant in the TUBB4B gene. Please note that patient diagnoses can include disorders such as Leber congenital amaurosis and/or primary ciliary dyskinesia.
Definition from the Mondo Disease Ontology (MONDO:1060115), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TUBB4BHGNC:20771
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
- Narrower terms (1)