Table 5.

Identification of genes associated with kidney anomaly

Gene	Corresponding CNV		Reported kidney anomalies in previous studies	Expressed in the developing mouse kidney	Renal phenotype in mouse	Expressed in the human kidney or cell lines	Involved in protein–protein interaction network with known CAKUT-associated genes	Association with kidney anomaly
	Chromosomal region	Type
HNF1B	17q12	del	+	+	+	+	+	Known
TBX1, CRKL	22q11.21	del	+	+	–	+	+	Known
CREBBP	16p13.3	del	+	+	–	+	+	Novel
SHANK3	22q13.31q13.33	del	+	+	–	+	–	Novel
ARL6	3q11.2	dup	+	–	–	+	+	Known
PMP22	17p12	dup	–	–	–	+	–	Novel
TBX18	6q14.2q15	del	+	+	+	+	+	Known
MYH11	16p13.11	dup	+	+	+	+	+	Novel
NIPA1	15q11.2	del	–	+	–	+	–	Novel
CASK	Xp11.4	del	+	+	–	+	–	Novel

CNV copy number variant, CAKUT congenital anomalies of the kidney and urinary tract, del deletion, dup duplication