Malformations of cortical development

Gene: CEP76

Green List (high evidence)

Comment on list classification: There are 8 unrelated patients reported in literature with biallelic CEP76 variants and syndromic ciliopathy, with prevalent ocular and neurodevelopmental features. 5 patients showed cortical anomalies including molar tooth sign, cerebellar vermis hypoplasia, and abnormal brain stem. Based on available evidence, this gene should be promoted to Green for Malformations of cortical development.

Created: 30 Mar 2026, 2:01 p.m. | Last Modified: 30 Mar 2026, 2:01 p.m.

Panel Version: 7.44

Comment on phenotypes: This gene is not yet associated with a phenotype in OMIM - accessed 30th Mar 2026.

Created: 30 Mar 2026, 1:58 p.m. | Last Modified: 30 Mar 2026, 1:58 p.m.

Panel Version: 7.41

PMID: 41105778 Khan et al., 2025
Report of 8 patients with biallelic variants in CEP76 and syndromic ciliopathy diagnosis, presenting with neurodevelopmental, ocular, and variable additional multisystem features.
Eye abnormalities were the most common feature in the cohort (7/8), including childhood-onset retinal degeneration, oculomotor apraxia, and nystagmus - 3 patients diagnosed with Joubert syndrome and 1 with Bardet-Biedl Syndrome. Neuroanatomical anomalies were seen in 5/8 patients - molar tooth sign, cerebellar vermis hypoplasia, and abnormal brain stem. Muscular hypotonia was seen in 4/8 patients, ID/DD in 3/8, obesity in 3/8.

Functional evidence: Proband-derived fibroblasts and CEP76-depleted RPE1 cells display ciliary deficits. Zebrafish cep76 mutants recapitulate key clinical phenotypes: retinal degeneration and visual function deficits, diminished locomotor activity
Sources: Literature

Created: 30 Mar 2026, 1:53 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 41105778