Malformations of cortical development

Gene: CEP76

Red List (low 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 non-cortical brain anomalies including molar tooth sign (brainstem and cerebellum anomaly), cerebellar vermis hypoplasia, and abnormal brain stem. Based on available evidence, this gene is not relevant to this panel - a curate_removed tag has been added.

Created: 30 Mar 2026, 2:01 p.m. | Last Modified: 18 May 2026, 2:14 p.m.

Panel Version: 8.3

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