Table 2.

Results With Targeted Gene Panels in CKD

Study	Participants	Key Results
Rasouly et al 201912	A convenience sample of exome sequence data from 7,974 self-declared healthy adults	Evaluation of the prevalence of candidate pathogenic variants in 625 genes correlated with Mendelian kidney and genitourinary disorders. In total, 23.3% had a candidate pathogenic variant, most of which were due to previously reported variants with high allele frequencies.
Trautmann et al 201836	Registry including >2,000 pediatric patients with steroid-resistant nephrotic syndrome	NGS-based gene panel screening with >30 podocyte-related genes complemented by WES achieved genetic diagnoses in 24% of the patients screened, broadened the spectrum of genetic disease entities presenting with steroid-resistant nephrotic syndrome phenotype (COL4A3-5, CLCN5), and added to the discovery of new disease causative genes (MYOE1, PTPRO).
Bullich et al 201839	421 patients with known or suspected inherited kidney diseases	78% of cystic and 62% of glomerular cases in the diagnostic cohort had a genetic cause.
Gast et al 201638	81 adults from 76 families (24 families with a history of kidney disease)	NGS identified collagen gene mutations in 38% of families with familial FSGS, and 3% with sporadic FSGS; >50% of the mutations occurred in COL4A5.
Gribouval et al 201840	135 patients with adult-onset steroid-resistant nephrotic syndrome and/or FSGS	Pathogenic mutations were found in 30 patients (22%), including 16 (12%) with mutations in known monogenic SRNS genes and 14 (10%) with APOL1 alleles at high risk. Of the 16 patients with monogenic steroid-resistant nephrotic syndrome mutations, 7 (44%) had mutations in COL4A.
Yao et al 201941	Probands with a pathologic diagnosis of FSGS and relatives with >500-mg protein excretion/d (total of 193 individuals from 179 families)	Pathogenic variants in COL4A3, COL4A4, or COL4A5 accounted for 55% (11 of 20) of cases associated with a single gene; most were found in COL4A5.
Papazachariou et al 201742	24 families with members having familial microscopic hematuria assessed for the presence of one of a genetically heterogeneous group of conditions, including the collagen IV nephropathies, heritable complement C3/CFHR5 nephropathy, and glomerulopathy with fibronectin deposits	In 17 of the 24 families (71%), 15 pathogenic mutations in COL4A3, COL4A4, or COL4A5—9 of them novel—were identified.
Mantovani et al 202043	212 patients with suspected ADPKD	Causative variants were detected in 61.3% of index patients and others of uncertain clinical significance in 12.5%. Most (88%) variants were in PKD1 and 12% were in PKD2. Overall, 80 of 158 variants (50.6%) were not reported in prior studies, indicating wide allelic heterogeneity.

Abbreviations: ADPKD, autosomal dominant polycystic kidney disease; APOL1, apolipoprotein L1; CKD, chronic kidney disease; CLCN5, chloride voltage-gated channel 5; COL4A, collagen type IV α-chain; FSGS, focal segmental glomerulosclerosis; MYOE1, myosin 1E; NGS, next-generation sequencing; PKD, polycystic kidney disease; PTPRO, protein tyrosine phosphatase receptor type O; WES, whole exome sequencing.