Thesis (Dr. med.) - Exome sequencing in hereditary nephropathies - Supplementary Table

Supplementary Table for the thesis (Dr. med.) "Exome sequencing in hereditary nephropathies" by Korbinian Maria Riedhammer, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany. <br><br>The aim of this thesis is to evaluate the application of ES in hereditary kidney disease in a cohort of 260 phenotypically well-ascertained index cases featuring children, adolescents, and adults. Each index case had either a phenotype in accordance with/the clinical tentative diagnosis of a specific hereditary nephropathy or had renal disease and fulfilled specific criteria such as positive family history or syndromic disease pointing towards a hereditary nephropathy. Furthermore, this thesis intends to delineate the utility of ES in uncovering phenocopies in hereditary nephropathies and prioritizing novel disease-associated genes and to improve clinical decision-making in patients with a presumed hereditary nephropathy.<br>The Supplementary Table features phenotypic and genotypic information on all 260 index cases included in this thesis with applied inclusion criteria and also information on all excluded cases of a larger ES cohort (called "NephroGen") of the Institute of Human Genetics Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.<br><br>