Neurological ciliopathies

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 Neurological ciliopathies.

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

Panel Version: 6.17

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, 1 with Bardet-Biedl Syndrome, and 2 patients had isolated retinitis pigmentosa. 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, 2:10 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
retinitis pigmentosa, MONDO:0019200; Joubert syndrome, MONDO:0018772; Bardet-Biedl syndrome, MONDO:0015229

Publications

• 41105778