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Table 5 Identification of genes associated with kidney anomaly

From: Is an analysis of copy number variants necessary for various types of kidney ultrasound anomalies in fetuses?

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