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| Cystic kidney disease v9.3 | CDC73 |
Aakash Joshi gene: CDC73 was added gene: CDC73 was added to Cystic kidney disease. Sources: Literature Mode of inheritance for gene: CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDC73 were set to PMCID 11748460 Phenotypes for gene: CDC73 were set to multiple renal cysts Penetrance for gene: CDC73 were set to Incomplete Review for gene: CDC73 was set to GREEN Added comment: Monoallelic CDC73 variants can be associated with variable presentation of renal cysts with 15-25% of affected individuals having renal cysts as per GeneReviews. PMCID 11748460 illustrates a case where an individual presented due to renal cysts (however was being concurrently having treatment for a jaw tumour). Sources: Literature |
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