Cystic Kidney Disease: Disease Spectrum and Genotype-Phenotype Correlations

This study seeks to characterize the genetic landscape of Autosomal Dominant Polycystic Kidney Disease (ADPKD). Sequencing data is primarily derived from a short-read targeted-Next Generation Sequencing (tNGS) custom panel of known and candidate genes towards polycystic kidney/liver diseases and ciliopathies. To understand the severity of the disease in individual patients, we have provided relevant phenotype information when available. This study is part of a multi-year effort; all submissions will be tied to this overarching dbGaP study to ensure continuity and facilitate integrated data access. Version 1 contains the tNGS sequencing data (BAM, gVCF, VCF) of Mayo Clinic patients with cystic kidney and/or cystic liver disease that were either negative for PKD1 or PKD2 pathogenic changes but had pathogenic changes detected in one of the minor ADPKD genes, such as IFT140, DNAJB11, ALG8, or ALG9. These individuals have been featured in publications detailing with monoallelic variants in these genes. The PubMed IDs are 39899384, 34890546, 29706351, and 32631624. ]]>
Individuals were recruited into the study at Mayo Clinic and had kidney and/or liver cysts (see individual publications for detailed inclusion and exclusion criteria). ]]>
V1: Initial Study Registration and Data submission regarding Monoallelic Gene Variants in ADPKD. ]]>