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| Renal ciliopathies v5.2 | TULP3 |
Aakash Joshi gene: TULP3 was added gene: TULP3 was added to Renal ciliopathies. Sources: Literature Mode of inheritance for gene: TULP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TULP3 were set to PMCID 11742108; PMCID 12432116 Phenotypes for gene: TULP3 were set to renal cysts; renal ciliopathy Penetrance for gene: TULP3 were set to Complete Review for gene: TULP3 was set to GREEN Added comment: TULP3 is known to cause a renal cystic disease phenotype but recent literature has identified that it is associated with transporting integral membrane and membrane-associated lipidated proteins into the cilia (PMCID 11742108 and PMCID 12432116). It would therefore fit with a renal ciliopathy and is also known to cause liver fibrosis and some evidence to suggest it has been associated with skeletal features (PMCID 12432116). Sources: Literature |
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