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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.

Version 2 contains all data from Version 1. Version 2 additionally contains the tNGS sequencing data (BAM, gVCF, VCF) of Mayo Clinic patients with cystic kidney and/or cystic liver disease with pathogenic changes linked to NEK8 ADPKD and biallelic C2CD3 ciliopathy-based disorder. In addition, a pediatric cohort of cystic kidney-affected individuals as well as an Adult-Onset ARPKD phenotype cohort of individuals are featured in this version. These individuals have been featured in publications with respect to the phenotype and cohort group. The PubMed IDs are 41790507, 37598857, and 30097616. Subjects in the Adult-Onset ARPKD phenotype group are currently undergoing publication and this study will be updated to reflect this.