Activity
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| Malformations of cortical development v7.44 | CEP76 | Ida Ertmanska Classified gene: CEP76 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v7.44 | 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 Malformations of cortical development. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v7.44 | CEP76 | Ida Ertmanska Gene: cep76 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v7.43 | CEP76 | Ida Ertmanska Phenotypes for gene: CEP76 were changed from ciliopathy, MONDO:0005308 to ciliopathy, MONDO:0005308; Joubert syndrome, MONDO:0018772; Bardet-Biedl syndrome, MONDO:0015229 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v7.42 | CEP76 | Ida Ertmanska Mode of pathogenicity for gene: CEP76 was changed from None to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v7.41 | CEP76 | Ida Ertmanska Added comment: Comment on phenotypes: This gene is not yet associated with a phenotype in OMIM - accessed 30th Mar 2026. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v7.41 | CEP76 | Ida Ertmanska Phenotypes for gene: CEP76 were changed from to ciliopathy, MONDO:0005308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v7.40 | CEP76 |
Ida Ertmanska gene: CEP76 was added gene: CEP76 was added to Malformations of cortical development. 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 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 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 |
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