CPLANE1 encodes ciliogenesis and planar polarity effector complex subunit 1 (3,197 aa). Involved in ciliogenesis. Involved in the establishment of cell polarity required for directional cell migration. Highest expression in Brain Cerebellum (14.0 TPM) and Nerve Tibial (13.6 TPM).

Orofaciodigital syndrome type 6 is associated with mutations in the CPLANE1 gene on chromosome 5.

CPLANE1 is classified as a druggable target with score 0.0.

Genetic testing for CPLANE1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 1 always present feature, 38 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for orofaciodigital syndrome type 6.

9 publications have been identified in PubMed for orofaciodigital syndrome type 6. Research spans Case Report / Case Series (44%), Basic Science / Preclinical (44%), and Epidemiology / Natural History (11%).

Recent Publications

• Boutaud L (2026). [PMID: 40841990](https://pubmed.ncbi.nlm.nih.gov/40841990/). *Clinical genetics*. [Basic Science / Preclinical]

• Jones N (2025). [PMID: 41064626](https://pubmed.ncbi.nlm.nih.gov/41064626/). *Case reports in nephrology and dialysis*. [Basic Science / Preclinical]

• Pardo LM (2025). [PMID: 41054827](https://pubmed.ncbi.nlm.nih.gov/41054827/). *Clinical genetics*. [Case Report / Case Series]

• Yang M (2025). [PMID: 40059580](https://pubmed.ncbi.nlm.nih.gov/40059580/). *Journal of clinical laboratory analysis*. [Case Report / Case Series]

• Shankarappa B (2025). [PMID: 39911166](https://pubmed.ncbi.nlm.nih.gov/39911166/). *Molecular syndromology*. [Case Report / Case Series]

• Lesnyak O (2024). [PMID: 38952406](https://pubmed.ncbi.nlm.nih.gov/38952406/). *Bone reports*. [Case Report / Case Series]

• Singh S (2024). [PMID: 38702430](https://pubmed.ncbi.nlm.nih.gov/38702430/). *European journal of human genetics : EJHG*. [Basic Science / Preclinical]

• Queiroz A (2024). [PMID: 38185723](https://pubmed.ncbi.nlm.nih.gov/38185723/). *Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry*. [Basic Science / Preclinical]

• Pan YW (2024). [PMID: 38671463](https://pubmed.ncbi.nlm.nih.gov/38671463/). *BMC medical genomics*. [Epidemiology / Natural History]