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פאנלים

CAKUT

GC_14

Last update: 26.01.2026

Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a diverse group of developmental disorders affecting renal formation and urinary tract morphogenesis. Clinical manifestations include renal agenesis, hypodysplasia, vesicoureteral reflux, duplex collecting systems, obstructive uropathy, and other congenital urinary tract anomalies.
 
This panel includes genes associated with the major forms of isolated and syndromic CAKUT, including disorders affecting renal development, branching morphogenesis, and urinary tract formation. Representative genes include HNF1B, PAX2, EYA1, RET, GREB1L, SALL1, TBX18, and ROBO2.

This panel is recommended for patients with congenital structural abnormalities of the kidneys or urinary tract, particularly when identified prenatally or during childhood or when CAKUT occurs with additional congenital anomalies.
ACE, ACTG2, AGT, AGTR1, ALDH1A2, ANOS1, BICC1, BMP4, BMP7, BNC2, CCNQ, CDC5L, CENPF, CEP55, CHD1L, CHD7, CHRM3, CHRNA3, CRKL, CTU2, DACH1, DACT1, DCHS1, DHCR7, DSTYK, EXOC3L2, EYA1, FANCB, FAT4, FGF20, FIBP, FOXC1, FRAS1, FREM1, FREM2, GATA2, GATA3, GDNF, GLI3, GPC3, GREB1L, GREM1, GRIP1, HAAO, HNF1B, HOXA13, HPSE2, HS2ST1, ITGA3, ITGA8, JAG1, KDM6A, KIF14, KMT2D, KYNU, LIFR, LMOD1, LRIG2, LRP4, MUC1, MYH11, MYL9, MYLK, MYOCD, NADSYN1, NEK8, NIPBL, NOTCH2, NPHP3, NRIP1, OSR1, PAX2, PBX1, PLVAP, PPP1R12A, PUF60, REN, RET, ROBO1, ROBO2, ROR2, SALL1, SALL4, SDCCAG8, SEC61A1, SHROOM4, SIX1, SIX2, SIX5, SLIT2, SOX17, SPRY1, SRGAP1, STRA6, TBC1D1, TBX18, TBX6, TFAP2A, TMEM260, TNXB, TRAP1, UMOD, UPK3A, VIPAS39, VPS33B, WBP11, WNT4, WNT5A, WT1, ZIC3, ZMYM2

ClinVar P/LP variants (IDs) not covered: EYA1:[4292662]; [3897900] | HOXA13:[1679196] | ZIC3:[3233415]


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