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| Renal ciliopathies v5.2 | C2CD3 |
Aakash Joshi gene: C2CD3 was added gene: C2CD3 was added to Renal ciliopathies. Sources: Literature Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C2CD3 were set to PMCID 11811416 Phenotypes for gene: C2CD3 were set to renal cysts; multisystem ciliopathy; renal ciliopathy Penetrance for gene: C2CD3 were set to Complete Review for gene: C2CD3 was set to GREEN Added comment: PMCID 11811416 identified 1 individual with biallelic variants in C2CD3 with isolated nephronophthisis. C2CD3 is associated with Orofaciodigitial syndrome 14, which is a known multisystem ciliopathy (OMIM 615948), with renal features reported including renal cysts. Sources: Literature |
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