Fig. 4

Summary of curated variants in disease-causative genes. The curated and reported variants are listed showing the gene involved and the type of variant (colored squares). Each raw represents a gene (mode of inheritance is reported in bracket; XLD: X-linked dominant; AD: autosomal dominant; AR: autosomal recessive; XLR: X-linked recessive; NA: not available) and each column a patient (Pts). Some patients presented more than one variant. Disease macro-categories (orange square) and family history (blue square for positive and yellow square for negative) for each patient are indicated. The graph of the top showed the age at recruitment for each diagnosed patient, while the histogram plot on the left showed the number of variants mapping within each gene (a). Number of variants and their ACMG classification identified for each disease macro-category (b). Distribution of heterozygous, homozygous, compound heterozygous, hemizygous and copy number variant (CNV) within the three different categories (C3-C4-C5) of variants (c). Histogram plot showing the distribution of the identified variants according to whether they are already or not published (d). CAK: CAKUT; CIL: ciliopathies; GLO: glomerulopathies; NEP: nephrolithiasis; TUB: tubulopathies; OTH: Others