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| Neurological ciliopathies v6.17 | CEP76 | Ida Ertmanska Classified gene: CEP76 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v6.17 | CEP76 | Ida Ertmanska Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v6.17 | CEP76 | Ida Ertmanska Gene: cep76 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v6.16 | CEP76 |
Ida Ertmanska gene: CEP76 was added gene: CEP76 was added to Neurological ciliopathies. Sources: Literature Q1_26_promote_green tags were added to gene: CEP76. Mode of inheritance for gene: CEP76 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP76 were set to 41105778 Phenotypes for gene: CEP76 were set to retinitis pigmentosa, MONDO:0019200; Joubert syndrome, MONDO:0018772; Bardet-Biedl syndrome, MONDO:0015229 Review for gene: CEP76 was set to GREEN Added comment: 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 |
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