Polymalformative syndromes associated with kidney involvement [282 genes]

This panel includes syndromic diseases of pediatric onset with multisystem manifestations and alterations of the genitourinary system such as renal malformations, renal hypoplasia/aplasia, hydronephrosis, vesicoureteral reflux, duplication of collecting system, renal cysts, nephronophthisis, nephrolithiasis, nephrotic syndrome and those that can cause kidney failure.

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Polymalformative syndromes associated with kidney involvement

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110431

Updated (dd/mm/yy): 06/06/2025

Polymalformative syndromes associated with kidney involvement: View panel
  • ACE
  • ACTB
  • ACTG1
  • ADAMTS9
  • AGT
  • AGTR1
  • AHI1
  • AMER1
  • ANKS6
  • ANOS1
  • ARL13B
  • ARL3
  • ARL6
  • ARMC9
  • ATN1
  • B3GLCT
  • B9D1
  • B9D2
  • BBS1
  • BBS10
  • BBS12
  • BBS2
  • BBS4
  • BBS5
  • BBS7
  • BBS9
  • BMP2
  • BMP4
  • BMPER
  • BNC2
  • BSCL2
  • CC2D2A
  • CCBE1
  • CCDC28B
  • CCL2
  • CCNQ
  • CD96
  • CDC42
  • CDK10
  • CDKN1C
  • CENPF
  • CEP104
  • CEP120
  • CEP164
  • CEP290
  • CEP41
  • CEP55
  • CEP83
  • CFAP418
  • CHD1L
  • CHD7
  • CHRM3
  • CISD2
  • CIT
  • CLCN7
  • CPLANE1
  • CRKL
  • CSPP1
  • CTU2
  • DACH1
  • DACT1
  • DCDC2
  • DCHS1
  • DDX59
  • DHCR7
  • DSTYK
  • DVL1
  • DVL3
  • DYNC2H1
  • DYNC2I1
  • DYNC2I2
  • DYNC2LI1
  • EP300
  • ESCO2
  • ETFA
  • ETFB
  • ETFDH
  • ETV4
  • EXOC8
  • EYA1
  • FAN1
  • FANCA
  • FANCB
  • FANCC
  • FANCD2
  • FANCE
  • FANCF
  • FANCI
  • FAT4
  • FGF10
  • FGF20
  • FGFR2
  • FGFR3
  • FLCN
  • FLNA
  • FMN1
  • FOXP1
  • FRAS1
  • FREM1
  • FREM2
  • FUZ
  • GATA3
  • GDF11
  • GEMIN4
  • GLI3
  • GLIS2
  • GLIS3
  • GPC3
  • GREB1L
  • GRIP1
  • HAAO
  • HES7
  • HNF1B
  • HPSE2
  • HSD17B4
  • HSPA9
  • IFT122
  • IFT140
  • IFT172
  • IFT27
  • IFT43
  • IFT46
  • IFT52
  • IFT74
  • IFT80
  • IFT81
  • INPP5E
  • INTU
  • INVS
  • IQCB1
  • ITGA8
  • JAG1
  • JAM3
  • KAT6B
  • KATNIP
  • KCTD1
  • KIAA0586
  • KIAA0753
  • KIF14
  • KIF7
  • KMT2D
  • LAGE3
  • LMX1B
  • LRIG2
  • LRP2
  • LRP4
  • LZTFL1
  • MAD2L2
  • MAPKBP1
  • MBTPS2
  • MCM5
  • MKKS
  • MKS1
  • MNX1
  • MUC1
  • MYCN
  • NAA10
  • NCAPG2
  • NEK1
  • NEK8
  • NFIA
  • NIPBL
  • NOTCH2
  • NPHP1
  • NPHP3
  • NPHP4
  • NRIP1
  • NSDHL
  • NXN
  • OFD1
  • OSGEP
  • PAX2
  • PAX8
  • PBX1
  • PCSK5
  • PDE6D
  • PEX1
  • PEX10
  • PEX11B
  • PEX12
  • PEX13
  • PEX14
  • PEX16
  • PEX19
  • PEX2
  • PEX26
  • PEX3
  • PEX5
  • PEX6
  • PHGDH
  • PIBF1
  • PIEZO2
  • PIGN
  • PIGT
  • PMM2
  • PORCN
  • PTEN
  • PUF60
  • RAD21
  • RAI1
  • REN
  • RERE
  • RET
  • RFWD3
  • RMND1
  • RNU4ATAC
  • ROBO2
  • ROR2
  • RPGRIP1L
  • RPL26
  • SALL1
  • SALL4
  • SDCCAG8
  • SEMA3E
  • SF3B4
  • SIX1
  • SIX2
  • SIX5
  • SKIC3
  • SLC41A1
  • SLIT2
  • SNRPB
  • SON
  • SOX11
  • SOX17
  • SRGAP1
  • STK11
  • STRA6
  • SUFU
  • TBC1D24
  • TBX18
  • TBX4
  • TBXT
  • TCTN1
  • TCTN2
  • TCTN3
  • TFAP2A
  • THOC6
  • TMEM107
  • TMEM138
  • TMEM216
  • TMEM231
  • TMEM237
  • TMEM260
  • TMEM67
  • TNXB
  • TP53RK
  • TP63
  • TPRKB
  • TRAF3IP1
  • TRAP1
  • TRIM32
  • TRIP11
  • TRPS1
  • TRRAP
  • TSC1
  • TSC2
  • TTC21B
  • TTC8
  • TXNDC15
  • TXNL4A
  • UMOD
  • UPK3A
  • VANGL1
  • VANGL2
  • VHL
  • WDPCP
  • WDR19
  • WDR35
  • WDR73
  • WFS1
  • WNT3
  • WNT4
  • WNT5A
  • WNT7A
  • XPNPEP3
  • XRCC2
  • XRCC4
  • ZIC3
  • ZMPSTE24
  • ZNF148
  • ZNF423

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

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