Polymalformative syndromes associated with kidney involvement [265 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.

Among the phenotypes included in this group of diseases, the following syndromes stand out:

  • Vesicoureteral reflux
  • Van Maldergem
  • Townes-Brocks
  • Simpson-Golabi-Behmel
  • Thoracic short rib dysplasia
  • Senior-Loken
  • Renal tubular dysgenesis
  • Renal hypodysplasia/aplasia
  • Peutz-Jeghers
  • Pallister-Hall
  • Otofaciocervical
  • Meckel
  • LADD
  • Joubert
  • Galloway-Mowat
  • Fraser
  • Cornelia de Lange
  • CHARGE
  • Brachiooculofacial
  • Beckwith-Wiedemann
  • Alagille
  • Meier-Gorlin
  • Bardet-Biedl

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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

Polymalformative syndromes associated with kidney involvement: View panel
  • ACE
  • ACTB
  • ACTG1
  • AGT
  • AGTR1
  • AHI1
  • AMER1
  • ANOS1
  • ARL3
  • ARL6
  • ATN1
  • B3GLCT
  • B9D1
  • B9D2
  • BBS1
  • BBS10
  • BBS12
  • BBS2
  • BBS4
  • BBS5
  • BBS7
  • BBS9
  • BMP2
  • BMP4
  • BMPER
  • BNC2
  • BSCL2
  • C5orf42
  • C8orf37
  • CC2D2A
  • CCBE1
  • CCDC28B
  • CCL2
  • CCNQ
  • CD96
  • CDC42
  • CDC5L
  • CDK10
  • CDKN1C
  • CENPF
  • CEP104
  • CEP120
  • CEP290
  • CEP41
  • CEP55
  • CHD1L
  • CHD7
  • CHRM3
  • CISD2
  • CIT
  • CLCN7
  • CRKL
  • CSPP1
  • CTU2
  • DACH1
  • DACT1
  • DCHS1
  • DDX59
  • DHCR7
  • DSTYK
  • DVL1
  • DVL3
  • DYNC2H1
  • DYNC2LI1
  • EP300
  • ESCO2
  • ETFA
  • ETFB
  • ETFDH
  • ETV4
  • EXOC8
  • EYA1
  • FANCA
  • FANCB
  • FANCC
  • FANCD2
  • FANCE
  • FANCF
  • FANCI
  • FAT4
  • FGF10
  • FGF20
  • FGFR2
  • FGFR3
  • FLCN
  • FLNA
  • FMN1
  • FOXP1
  • FRAS1
  • FREM1
  • FREM2
  • FUZ
  • GATA3
  • GDF11
  • GEMIN4
  • GLI3
  • GLIS3
  • GPC3
  • GREB1L
  • GRIP1
  • H19
  • HAAO
  • HES7
  • HNF1B
  • HPSE2
  • HSD17B4
  • HSPA9
  • IFT122
  • IFT140
  • IFT172
  • IFT27
  • IFT43
  • IFT46
  • IFT52
  • IFT74
  • IFT80
  • IFT81
  • INPP5E
  • INTU
  • IQCB1
  • ITGA8
  • JAG1
  • JAM3
  • KAT6B
  • KCTD1
  • KIAA0586
  • KIAA0753
  • KIF14
  • KIF7
  • KMT2D
  • LAGE3
  • LMX1B
  • LRIG2
  • LRP2
  • LRP4
  • LZTFL1
  • MAD2L2
  • MBTPS2
  • MCM5
  • MKKS
  • MKS1
  • MNX1
  • MUC1
  • MYCN
  • NAA10
  • NCAPG2
  • NEK1
  • NFIA
  • NIPBL
  • NOTCH2
  • NPHP3
  • 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
  • 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
  • TTC37
  • TTC8
  • TXNL4A
  • UMOD
  • UPK3A
  • VANGL1
  • VANGL2
  • VHL
  • WDPCP
  • WDR19
  • WDR34
  • WDR35
  • WDR60
  • WDR73
  • WFS1
  • WNT3
  • WNT4
  • WNT5A
  • WNT7A
  • XRCC2
  • XRCC4
  • ZIC3
  • ZMPSTE24
  • ZNF148

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.