Table 1.

Disease-causing mutations identified in 34 out of 104 (32.7%) renal transplant recipients with onset of CKD at < 25 years of age

Familya	A Priori Clinical Diagnosis	Post-WES Diagnosis	Extrarenal Manifestations	Family History	Homozygosity (>75 MB)	Gene	Zygosity	c.Change p.Change Segregation (m, p)b	Conservation	PP2c SIFTd/MutationTastere	Allele Frequency in gnomADf	HGMDg (ACMGh)	PMID (if previously reported)
CAKUT
B910i	Wolf–Hirschhorn syndrome	Wolf–Hirschhorn syndrome	Growth failure, seizures, developmental delay	No	No	4p16.3 deletion	Heterozygous deletion (NA)					NA	#10995514
B643i	L UPJO R MCDK	RCAD	Autism	No	No	17q12 deletion	Heterozygous deletion (NA)					NA	#25536396
B849i	BOR	BOR	Cleft palate, brachial pit, hearing loss	No	No	EYA1	Het	c.966+1G>C	N/A	N/A	None	Gene (P)	Novel
								Splice (NA)
B1162	BOR	BOR	Malformed ears, hearing loss, polydactyly	Yes (mother)	No	EYA1	Het	c.1319G>A	C.i.	0.786 Tol/DC	None	Variant (P)	#10464653
								p.R440Q (NA)
B664	B/L MCDK	RCAD	None	No	No	HNF1B	Het	c.494G>A	C.e.	0.999 Del/—	None	Variant (LP)	#24254850
								p.R165H (NA)
B1137	VUR	Alagille syndrome	ADHD, scoliosis, heart murmur	Yes (mother)	No	JAG1	Het	c.2638T>C	D.m.	0.99 Del/DC	0/1/251,430	Gene (LP)	Novel
								p.C880R (NA)
B848	Alagille syndrome	Alagille syndrome	Tetralogy of Fallot, liver failure	No	No	JAG1	Het	c.2957_2958insTT	N/A	N/A	None	Gene (P)	Novel
								p.L986Ffs*2 (NA)
B1142	B/L renal agenesis	Feingold syndrome	Duodenal web	Yes (father)	No	MYCN	Het	c.1178G>A	D.m.	1.00 Del/DC	None	Variant (LP)	#15821734
								p.R393H (NA)
B934	BOR	Townes Brocks syndrome	Malformed ears, hearing loss, Duane syndrome, VSD, polydactyly	No	No	SALL1	Het	c.826C>T	N/A	N/A	None	Variant (P)	#9973281
								p.R276* (NA, WT)
B625	B/L renal dysplasia	EEC syndrome	Hypergonadotropic hypogonadism, sandal gap deformity	Yes (pat gpa)	No	TP63	Het	c.1012C>T	C.i.	0.99 Del/DC	0/1/251,202	Gene (LP)	Novel
								p.R338C (NA; het)