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| Mendeliome v1.4544 | CCDC57 | Zornitza Stark Marked gene: CCDC57 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4544 | CCDC57 | Zornitza Stark Gene: ccdc57 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4544 | CCDC57 |
Zornitza Stark gene: CCDC57 was added gene: CCDC57 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CCDC57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC57 were set to 41758249 Phenotypes for gene: CCDC57 were set to Visceral heterotaxy, MONDO:0018677, CCDC57-related Review for gene: CCDC57 was set to RED Added comment: PMID 41758249 reports a single individual with compound heterozygous missense variants presenting with isolated laterality disorder (situs inversus, dextrocardia, chronic sinusitis). Xenopus rescue experiments showed that wild‑type CCDC57 mRNA rescues ciliary structure and fluid flow, whereas patient variant mRNAs fail to rescue, supporting loss‑of‑function. Sources: Literature |
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