Table 2.

Identified pathogenic or likely pathogenic variants stratified by panel.

Panel	%F	Number of families	Overall diagnostic rate (%)	Identified genes (number of families)
ADTKD	67	6	17	UMOD (5), HNF1B (1)
aHUS/C3 GN	62	28a	18	CFH (8), CFHR1 and CFHR3 homozygous deletion (8), THBD (5), CD46 (3), C3 (2), CFHR1 homozygous deletion (1), CFHR5 (1), DGKE (1)
Alport	55	56	65	COL4A5 (41), COL4A4 (8), COL4A3 (7)
ARPKD	67	3	25	PKHD1 (3)
BORS	0	1	20	EYA1 (1)
CAKUT	40	5	13	FRAS1 (1), GATA3 (1), HNF1B (1), partial HPSE2 homozygous triplication (1)b, PAX2 (1)
Custom	50	4	33	CASR (1), OCRL (1), RMND1 (1), RUNX2 (1)
Cystinosis	50	2	100	CTNS (2)
Nephrotic	42	33	31	NPHS1 (7), NPHS2 (5), COL4A4 (3), TRPC6 (3), CLCN5 (2), COL4A3 (2), COL4A5 (2), LAMB2 (2), COQ8B (1), LMX1B (1), MYO1E (1), PAX2 (1), PLCE1 (1), SMARCAL1 (1), TTC21B (1)
NPHP & related ciliopathies	41	22	33	BBS1 (3), NPHP1 (3), NPHP4 (3), BBS10 (2), AHI1 (1), ALMS1 (1), BBS7 (1), C5ORF42 (1), CEP290 (1), IFT140 (1), INVS (1), IQCB1 (1), MKKS (1), NPHP3 (1), TMEM67 (1)
Tubulopathies	60	30	44	SLC12A3 (13), CLCN5 (3), AGXT (2), HNF4A (2), SLC4A1 (2), SLC7A9 (2), AQP2 (1), ATP6V1B1 (1), CLCNKB (1), GRHPR (1), SCNN1A (1), SLC12A1 (1)

Variant classification was based on 2015 ACMG guidelines²⁰. Diagnostic rate was defined as the proportion of referred families in which a pathogenic or likely pathogenic variant was detected. Sex ratio was abbreviated as %F (percent female).

Abbreviated panels are as follows: ADTKD autosomal dominant tubulointerstitial kidney disease, aHUS/C3 GN atypical hemolytic uremic syndrome-C3 glomerulonephritis, Alport Alport syndrome, ARPKD autosomal recessive polycystic kidney disease, BORS branchio-oto renal syndrome, CAKUT congenital anomalies of the kidney and urinary tract, Nephrotic nephrotic syndrome, NPHP & related ciliopathies nephronophthisis & related ciliopathies.

^aTwo likely pathogenic/pathogenic variants were found in one family.

^bUnaffected parents confirmed heterozygous, affected siblings also homozygous.