Figure 1.

Distribution of gene groups in definitely and likely pathogenic variants reveal that COL4A is leading single gene cause. The overall genetic diagnostic rate was 11% (20 out of 179) in the case series when only considering definitely pathogenic variants. There were (A) 20 definitely pathogenic, (B) 18 likely pathogenic, and (C) 15 possibly pathogenic variants identified. Of the (A) definitely pathogenic and (B) likely pathogenic variants, the highest percentage was in COL4A3/A4/A5, followed by podocyte then CAKUT genes. A minority of likely pathogenic and (C) possibly pathogenic variants were also found in the NPHP genes. Numbers in graph represent percentage.