Features include sometimes findings: Microcephaly, Cleft palate, Anencephaly, and Microphthalmia and others. 18 total HPO annotations.

CEP290 encodes centrosomal protein 290 (2,479 aa). Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110. Highest expression in Ovary (16.9 TPM) and Nerve Tibial (14.0 TPM).

Meckel syndrome, type 4 is associated with mutations in the CEP290 gene on chromosome 12.

The CEP290 protein participates in CP110 and CEP97 dissociate from the centriole, The distal appendage proteins recruit TTBK2, and Anchoring of the basal body to the plasma membrane pathways.

CEP290 is classified as a druggable target with score 0.0.

Genetic testing for CEP290 is available. Testing is considered confirmatory for diagnosis.

No clinical trials have been registered for Meckel syndrome, type 4.

6 publications have been identified in PubMed for Meckel syndrome, type 4. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (33%), and Epidemiology / Natural History (17%).

Recent Publications

• Wang L (2026). [PMID: 41703510](https://pubmed.ncbi.nlm.nih.gov/41703510/). *BMC Ophthalmol*. [Case Report / Case Series]

• Yang Q (2025). [PMID: 41317100](https://pubmed.ncbi.nlm.nih.gov/41317100/). *Mol Genet Genomic Med*. [Case Report / Case Series]

• Campobasso G (2025). [PMID: 40565534](https://pubmed.ncbi.nlm.nih.gov/40565534/). *Genes (Basel)*. [Review / Meta-Analysis]

• Hakeem A (2025). [PMID: 39781470](https://pubmed.ncbi.nlm.nih.gov/39781470/). *Int J Biol Sci*. [Review / Meta-Analysis]

• Ercoskun P (2025). [PMID: 39731278](https://pubmed.ncbi.nlm.nih.gov/39731278/). *Clin Genet*. [Epidemiology / Natural History]

• Betz C (2025). [PMID: 40170356](https://pubmed.ncbi.nlm.nih.gov/40170356/). *HGG Adv*. [Case Report / Case Series]