Gen-Panel
Kongenitale Anomalien der Niere und ableitenden Harnwege (CAKUT): ID229.03, 62 Gene
ACE,
ACTG2,
AGT,
AGTR1,
ANOS1,
BICC1,
BMP4,
BNC2,
CDC5L,
CEP55,
CHD1L,
CHRM3,
CRKL,
DSTYK,
EYA1,
FAT4,
FGF20,
FRAS1,
FREM1,
FREM2,
GATA3,
GFRA1,
GLI3,
GREB1L,
GRIP1,
HNF1B,
HPSE2,
ITGA8,
KIF14,
LIFR,
LMOD1,
LRIG2,
LRP4,
MUC1,
MYH11,
MYL9,
MYLK,
NEK8,
NPHP3,
NRIP1,
PAX2,
PBX1,
REN,
RET,
ROBO1,
ROBO2,
SALL1,
SIX1,
SIX2,
SIX5,
SLIT2,
SOX11,
SOX17,
TBC1D1,
TBX18,
TFAP2A,
TNXB,
TRAP1,
UMOD,
UPK3A,
WBP11,
WNT4
Inkludierte Phänotypen
Branchiootorenales Syndrom (BOR): 5 Gene
EYA1,
SALL1,
SIX1,
SIX5,
TFAP2A
Fraser-Syndrom (FRASRS): 3 Gene
FRAS1,
FREM2,
GRIP1
MMIH-Syndrom (MMIHS): 5 Gene
ACTG2,
LMOD1,
MYH11,
MYL9,
MYLK
Renale Hypodysplasie/Aplasie und renale Agenesie: 25 Gene
ANOS1,
BICC1,
BMP4,
CEP55,
DSTYK,
FAT4,
FGF20,
FREM1,
GATA3,
GFRA1,
GREB1L,
HNF1B,
ITGA8,
NEK8,
NPHP3,
NRIP1,
PAX2,
PBX1,
RET,
ROBO1,
SALL1,
TBX18,
UPK3A,
WBP11,
WNT4
Renale tubuläre Dysgenesie (RTD): 4 Gene
ACE,
AGT,
AGTR1,
REN
Vesikoureteraler Reflux (VUR): 10 Gene
DSTYK,
HPSE2,
LRIG2,
NRIP1,
PAX2,
PBX1,
ROBO2,
SOX17,
TBX18,
TNXB
HPO Terms
Hydronephrosis, Vesicoureteral reflux, Congenital megaureter, Ureter duplex, Duplicated collecting system, Bifid ureter, Crossed fused renal ectopia, Sonographic non‑visualized fetal bladder, Renal cysts, Renal cortical microcysts, Ureteral atresia, Grade III vesicoureteral reflux, Grade IV vesicoureteral reflux, Kidney cystic disease, Kidney cysts, Kidney cortical microcysts, Kidney anomaly, Kidney developmental disorder
