Retinal disorders

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. 7 patients had an ocular phenotype, of which 2 presented with isolated retinitis pigmentosa. Functional evidence shows that cep76 knockout in zebrafish results in retinal degeneration. Based on available evidence, this gene should be promoted to Green for Retinal disorders.

Created: 30 Mar 2026, 2:12 p.m. | Last Modified: 30 Mar 2026, 2:12 p.m.

Panel Version: 8.110

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, 2:09 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