Test Code: PNL211

Foetal anomalies Genetic Panel

Rare Disease
This panel analyses genes associated with fetal structural abnormalities detected on prenatal ultrasound. It includes genes implicated in a wide range of developmental disorders affecting multiple organ systems and is intended to aid in the diagnosis of both isolated and syndromic fetal anomalies, supporting clinical management and genetic counselling.
Sample Type
3 ml peripheral blood in EDTA (purple/pink top) tube
Turnaround Time
3 weeks days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing

Genes Analyzed

2119 genes
AAAS AARS2 ABCA12 ABCC6 ABCC9 ABHD5 ABI2 ABL1 ACAD9 ACADVL ACAN ACBD6 ACE ACOX1 ACP5 ACTA1 ACTA2 ACTB ACTC1 ACTG1 ACTG2 ACVR1 ACVRL1 ACY1 ADAMTS10 ADAMTS15 ADAMTS17 ADAMTS3 ADAMTSL2 ADAR ADAT3 ADCY6 ADD1 ADGRG1 ADGRG6 ADNP ADSL AFF3 AFF4 AGK AGL AGPS AGRN AGT AGTR1 AHCY AHDC1 AHI1 AKT1 AKT2 AKT3 AL117258.1 ALDH18A1 ALDH1A2 ALDH1A3 ALDH3A2 ALDH7A1 ALDOA ALG1 ALG12 ALG14 ALG2 ALG3 ALG6 ALG8 ALG9 ALMS1 ALOX12B ALOXE3 ALPK3 ALPL ALX1 ALX3 ALX4 AMACR AMER1 AMMECR1 AMOTL1 AMPD2 AMT ANAPC1 ANGPT2 ANKH ANKLE2 ANKRD11 ANKS6 ANOS1 ANTXR1 ANTXR2 AP1S2 AP4B1 AP4E1 AP4S1 APC2 AR ARCN1 ARF3 ARFGEF2 ARHGAP29 ARHGAP31 ARID1A ARID1B ARID2 ARL13B ARL2BP ARL3 ARL6 ARL6IP1 ARMC4 ARMC9 ARSA ARSB ARSE ARX ASAH1 ASCC1 ASNS ASPA ASPM ASS1 ASXL1 ASXL2 ASXL3 ATAD1 ATAD3A ATG7 ATIC ATN1 ATP1A2 ATP5O ATP6V0A2 ATP7A ATR ATRX B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GALT7 B4GAT1 B9D1 B9D2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAP31 BCL11A BCOR BCS1L BFSP2 BGN BHLHA9 BICD2 BIN1 BLM BMP1 BMP2 BMP4 BMPER BMPR1B BNC2 BORCS5 BRAF BRAT1 BRCA1 BRCA2 BRD4 BRF1 BRF2 BRIP1 BRPF1 BSND BTD BUB1B C11orf70 C12orf57 C12orf65 C12orf66 C16orf62 C19orf70 C1orf127 C1QBP C21orf2 C21orf59 C2CD3 C2orf69 C5orf42 C8orf37 CA2 CA8 CACHD1 CACNA1C CACNA1E CACNA1G CACNA1S CAMSAP1 CANT1 CASK CASP2 CASR CBFB CBL CBY1 CC2D2A CCBE1 CCDC103 CCDC114 CCDC151 CCDC22 CCDC32 CCDC39 CCDC40 CCDC8 CCDC88A CCDC88C CCND2 CDAN1 CDC42 CDC42BPB CDC45 CDC6 CDH1 CDH2 CDH3 CDK10 CDK13 CDK5 CDK5RAP2 CDK8 CDKL5 CDKN1C CDON CDT1 CDX2 CELSR1 CENPF CENPJ CEP104 CEP120 CEP135 CEP152 CEP164 CEP290 CEP295 CEP41 CEP55 CEP57 CEP63 CEP76 CEP83 CEP85L CERS3 CFAP45 CFAP52 CFAP53 CFC1 CFL2 CFTR CHAMP1 CHAT CHD4 CHD7 CHKB CHMP1A CHRNA1 CHRNA3 CHRNB1 CHRND CHRNE CHRNG CHST14 CHST3 CHSY1 CHUK CIT CKAP2L CLCN3 CLCN4 CLCN7 CLCNKA CLCNKB CLP1 CLPB CLTC CNOT1 CNOT2 CNOT3 CNTNAP1 CNTNAP2 COA7 COASY COG1 COG4 COG5 COG6 COG7 COG8 COL10A1 COL11A1 COL11A2 COL12A1 COL13A1 COL18A1 COL1A1 COL1A2 COL25A1 COL2A1 COL3A1 COL4A1 COL4A2 COL4A3BP COL6A1 COL6A2 COL6A3 COL9A1 COL9A2 COLEC10 COLEC11 COLQ COMP COQ2 COQ4 COQ7 COQ9 COX7B CPT2 CRADD CRB2 CREB3L1 CREBBP CRIPT CRLF1 CRTAP CRYAA CRYBA1 CRYBA4 CRYBB1 CRYBB2 CRYBB3 CRYGC CRYGD CSDE1 CSF1R CSGALNACT1 CSNK2A1 CSPP1 CTC1 CTCF CTGF CTNNA2 CTNNB1 CTNND1 CTSA CTSD CTSK CTU2 CUL4B CUL7 CWC27 CYBB CYP11A1 CYP11B1 CYP17A1 CYP1B1 CYP21A2 CYP26B1 CYP2U1 CYP4F22 DAG1 DARS DARS2 DAW1 DCC DCHS1 DCX DDR2 DDRGK1 DDX11 DDX3X DDX59 DENND5A DEPDC5 DHCR24 DHCR7 DHFR DHODH DHRSX DHX30 DHX37 DHX9 DIAPH1 DIS3L2 DISP1 DKC1 DLG5 DLL1 DLL3 DLL4 DLX5 DNA2 DNAAF1 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB11 DNAL1 DNM1L DNM2 DNMT3A DNMT3B DOCK6 DOK7 DOLK DONSON DOT1L DPAGT1 DPF2 DPH1 DPH5 DPM1 DPM2 DPM3 DPYSL5 DRG1 DSE DSP DST DSTYK DVL1 DVL3 DYM DYNC1H1 DYNC1I1 DYNC1I2 DYNC2H1 DYNC2LI1 DYRK1A DZIP1L EARS2 EBF3 EBP ECEL1 ECHS1 EDNRA EDNRB EED EEF2 EEFSEC EFCAB1 EFEMP2 EFL1 EFNB1 EFTUD2 EHBP1L1 EHMT1 EIF2AK3 EIF2B2 EIF2B3 EIF2S3 EIF4A2 EIF4A3 EIF5A ELAC2 ELN ELOVL4 EMC10 EMD EMG1 EML1 EN1 ENG ENPP1 EOGT EP300 EPG5 EPHB4 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ERGIC1 ERI1 ESAM ESCO2 ETFA ETFB ETFDH EVC EVC2 EXOC3L2 EXOC6B EXOC7 EXOSC3 EXOSC8 EXOSC9 EXT1 EXT2 EXTL3 EYA1 EZH2 FAAP100 FAH FAM111A FAM126A FAM149B1 FAM20A FAM20C FAM46A FAM58A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FAR1 FAS FAT1 FAT4 FBLN5 FBN1 FBN2 FBRSL1 FBXL4 FBXO28 FBXW7 FEM1B FGD1 FGF10 FGF3 FGF4 FGF8 FGFR1 FGFR2 FGFR3 FH FIG4 FILIP1 FKBP10 FKBP14 FKRP FKTN FLNA FLNB FLNC FLT4 FLVCR1 FLVCR2 FN1 FOLR1 FOSL2 FOXC1 FOXC2 FOXE1 FOXE3 FOXF1 FOXG1 FOXI3 FOXJ1 FOXP3 FOXP4 FOXRED1 FRA10AC1 FRAS1 FREM1 FREM2 FRMD4A FTL FTO FUT8 FUZ FYCO1 FZD2 G6PC3 GAA GALC GALE GALK1 GALNS GALNT2 GALT GANAB GATA1 GATA2 GATA3 GATA4 GATA6 GATAD2B GATB GBA GBA2 GBE1 GCDH GDF1 GDF11 GDF5 GDF6 GEMIN4 GFAP GFM1 GFPT1 GFRA1 GHR GINS3 GJA1 GJA3 GJA8 GJC2 GLA GLB1 GLDC GLDN GLE1 GLI1 GLI2 GLI3 GLIS3 GLUL GMNN GMPPB GNAI2 GNAI3 GNAO1 GNAS GNB1 GNB2 GNPAT GNPTAB GNPTG GON4L GON7 GORAB GPC3 GPC6 GPI GPKOW GPSM2 GPX4 GREB1L GRHL3 GRIN1 GRIN2B GRIP1 GRM7 GSC GTF2H5 GTF3C3 GTPBP2 GTPBP3 GUCY2C GUSB GZF1 H3F3A H3F3B HAAO HADHA HADHB HBA1 HBA2 HCCS HCFC1 HDAC3 HDAC8 HECTD4 HERC2 HES7 HESX1 HHAT HIBCH HIST1H1E HIVEP2 HK1 HMGA2 HMGB1 HMX1 HNF1B HNF4A HNRNPH1 HNRNPH2 HNRNPK HNRNPR HNRNPU HOXA1 HOXA13 HOXD13 HPSE2 HR HRAS HS2ST1 HSD17B3 HSD17B4 HSF4 HSPA9 HSPD1 HSPG2 HUWE1 HYAL2 HYLS1 IARS IBA57 ICK IDH1 IDS IDUA IER3IP1 IFIH1 IFITM5 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT57 IFT74 IFT80 IFT81 IGF1 IGF1R IGF2 IGHMBP2 IHH IKBKG IL11RA IL1RAPL1 IL6ST IMPAD1 INPP4A INPP5E INPPL1 INSR INTS1 INTS11 INTU INVS IQCB1 IRF6 IRX5 ISPD ITGA3 ITGA6 ITGA8 ITGAV ITGB4 JAG1 JAM3 KANSL1 KAT6A KAT6B KATNB1 KCNC3 KCNJ1 KCNJ2 KCNJ8 KCNK3 KCNK9 KCTD1 KDELR2 KDM2B KDM4B KDM5C KDM6A KIAA0556 KIAA0586 KIAA0753 KIAA1109 KIDINS220 KIF11 KIF14 KIF1A KIF1BP KIF21A KIF22 KIF24 KIF26A KIF2A KIF4A KIF5B KIF5C KIF7 KLF1 KLHL40 KLHL41 KLHL7 KMT2A KMT2B KMT2C KMT2D KNL1 KRAS KRIT1 KYNU L1CAM L2HGDH LAGE3 LAMA1 LAMA2 LAMA5 LAMB1 LAMB2 LAMC3 LARGE1 LARP7 LARS2 LBR LDB1 LEF1 LFNG LGI3 LGI4 LHX3 LHX4 LIFR LIG4 LINC01081 LINC01082 LIPA LIPT2 LMBR1 LMBRD1 LMNA LMNB1 LMNB2 LMOD2 LMOD3 LMX1B LNPK LONP1 LOX LRP2 LRP4 LRP5 LRRC32 LRRC56 LRRC6 LSM1 LSS LTBP1 LTBP3 LTBP4 LYST LZTFL1 LZTR1 MAB21L1 MAB21L2 MACF1 MAF MAFB MAGED2 MAGEL2 MAN2C1 MAP2K1 MAP2K2 MAP3K1 MAP3K20 MAP3K7 MAP4K4 MAPK1 MAPK8IP3 MAPKAPK5 MAPRE2 MASP1 MAST1 MATN3 MAX MBTPS2 MCIDAS MCOLN1 MCPH1 MDFIC MECOM MED11 MED12 MED13L MED25 MED27 MEF2C MEGF10 MEGF8 MEIS2 MEOX1 MESD MESP2 MFRP MFSD2A MGP MIA3 MID1 MINPP1 MKKS MKS1 MLC1 MLYCD MMACHC MMADHC MMP13 MMP21 MN1 MNS1 MNX1 MOCS1 MOCS2 MOGS MPDU1 MPDZ MPLKIP MRAS MRPS22 MSL2 MSL3 MSMO1 MSTO1 MSX1 MSX2 MTFMT MTM1 MTO1 MTOR MUSK MYBBP1A MYBPC1 MYCN MYH10 MYH11 MYH2 MYH3 MYH6 MYH7 MYH8 MYL1 MYL9 MYLPF MYMK MYO18B MYO9A MYOCD MYOD1 MYPN MYRF MYT1 NAA10 NACC1 NADSYN1 NAGA NALCN NANS NBAS NBN NDE1 NDP NDUFA6 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB7 NDUFS1 NEB NECTIN1 NECTIN4 NEDD4L NEK1 NEK8 NEK9 NEPRO NEU1 NEXN NF1 NFIA NFIB NFIX NHEJ1 NHS NIPAL4 NIPBL NKX2-5 NKX3-2 NLRP3 NOG NONO NOTCH1 NOTCH2 NOVA2 NPC1 NPC2 NPHP1 NPHP3 NPHP4 NPHS1 NPR2 NR0B1 NR2F1 NR2F2 NR5A1 NR6A1 NRAS NSD1 NSD2 NSDHL NSRP1 NSUN6 NUBPL NUDT2 NUP107 NUP133 NUP188 NXN OBSL1 OCLN OCRL ODC1 OFD1 OPHN1 ORC1 ORC4 ORC6 OSGEP OSTM1 OTUD5 OTUD6B OTX2 P3H1 P4HB PACS1 PACS2 PAFAH1B1 PAICS PAK2 PAK3 PALB2 PAN2 PAPSS2 PARN PAX1 PAX2 PAX3 PAX6 PAX7 PAX8 PBX1 PC PCDH12 PCGF2 PCNT PCYT1A PDCD10 PDCD2 PDE3A PDE4D PDGFRB PDHA1 PDHB PDHX PDIA6 PEPD PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PFKM PGAP1 PGAP2 PGAP3 PGM1 PGM3 PHF21A PHF5A PHF6 PHF8 PHGDH PHIP PHOX2B PI4K2A PI4KA PIBF1 PIDD1 PIEZO1 PIEZO2 PIGA PIGB PIGG PIGH PIGK PIGL PIGN PIGO PIGP PIGS PIGT PIGU PIGV PIGW PIH1D3 PIK3C2A PIK3CA PIK3R1 PIK3R2 PIP5K1C PITX1 PITX2 PITX3 PKD1 PKD1L1 PKD2 PKDCC PKHD1 PKLR PLAA PLAG1 PLCB4 PLD1 PLEC PLG PLK4 PLOD1 PLOD2 PLPBP PLS3 PLXNA1 PLXND1 PMM2 PNKP PNPLA1 PNPLA8 POC1A POGZ POLE POLG2 POLR1A POLR1B POLR1C POLR1D POLR3A POLR3B POMGNT1 POMGNT2 POMK POMT1 POMT2 POP1 POR PORCN POU1F1 PPFIA3 PPFIBP1 PPIB PPIL1 PPP1CB PPP1R12A PPP1R21 PPP2CA PPP2R1A PPP2R3C PPP2R5D PPP3CA PQBP1 PRDM13 PRF1 PRG4 PRIM1 PRKACA PRKACB PRKAG2 PRKAR1A PRKCI PRKD1 PRMT7 PRR12 PRRX1 PRSS56 PRUNE1 PSAP PSAT1 PSKH1 PSMF1 PSPH PTBP1 PTCH1 PTDSS1 PTEN PTF1A PTH1R PTHLH PTPN11 PTPN14 PTPN23 PTS PUF60 PUM1 PUS3 PXDN PYCR1 PYGM QRICH1 QRSL1 RAB11A RAB11B RAB18 RAB23 RAB33B RAB34 RAB3GAP1 RAB3GAP2 RAC1 RAC3 RAD21 RAD50 RAD51 RAF1 RAI1 RALA RALGAPA1 RAP1B RAPSN RARB RARS2 RASA1 RAX RBBP5 RBBP8 RBM10 RBM8A RBP4 RBPJ RECQL4 RELN REN RERE RET RFT1 RFWD3 RFX6 RHOBTB2 RIPK4 RIPPLY2 RIT1 RLIM RMND1 RMRP RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF113A RNF125 RNU12 RNU4-2 RNU4ATAC RNU5B-1 RNU7-1 ROBO1 ROBO3 ROGDI ROR2 RPGRIP1L RPL10 RPL11 RPL13 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 RPS6KA3 RPS7 RRAGC RRAS RRAS2 RRM2B RSG1 RSPH4A RSPH9 RSPO2 RSPRY1 RTEL1 RTTN RUNX2 RYR1 SALL1 SALL4 SAMD9 SAMHD1 SART3 SASS6 SATB1 SATB2 SBDS SC5D SCAF4 SCARF2 SCLT1 SCN1A SCN2A SCN3A SCN4A SCN5A SCNM1 SCO2 SCUBE3 SCYL2 SDCCAG8 SDR9C7 SEC23B SEC24D SELENON SEMA3A SENP7 SEPSECS SERPINF1 SERPINH1 SETBP1 SETD1A SETD2 SETD5 SF3B4 SGPL1 SH3PXD2B SHANK3 SHH SHMT2 SHOC2 SHOX SHROOM4 SIK3 SIL1 SIN3A SIX2 SIX3 SIX6 SKI SKIV2L SKOR2 SLC10A7 SLC12A1 SLC12A6 SLC12A9 SLC13A5 SLC16A2 SLC17A5 SLC18A3 SLC20A1 SLC25A19 SLC25A20 SLC25A24 SLC25A38 SLC25A4 SLC25A46 SLC26A2 SLC26A3 SLC27A4 SLC29A3 SLC2A10 SLC33A1 SLC34A1 SLC35A2 SLC35A3 SLC35C1 SLC35D1 SLC39A8 SLC4A10 SLC5A6 SLC5A7 SLC6A9 SLF2 SLX4 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMC5 SMCHD1 SMG8 SMG9 SMN1 SMO SMOC1 SMPD4 SMS SNAP25 SNAPIN SNF8 SNORD118 SNRPB SNX10 SNX14 SON SOS1 SOS2 SOST SOX10 SOX11 SOX17 SOX18 SOX2 SOX3 SOX4 SOX6 SOX9 SP7 SPAG1 SPARC SPATA5 SPECC1L SPEG SPEN SPG11 SPINT2 SPOUT1 SPRED1 SPTA1 SPTB SRCAP SRD5A2 SRD5A3 SRPK3 SRY ST14 STAC3 STAG2 STAMBP STAR STIL STRA6 STRADA STT3A STX5 SUCLG1 SUFU SULT2B1 SUMF1 SUZ12 SYNE1 TAB2 TAF1 TAF8 TALDO1 TAPT1 TASP1 TAZ TBC1D20 TBC1D23 TBC1D24 TBC1D32 TBCD TBCE TBCK TBL1XR1 TBR1 TBX1 TBX15 TBX18 TBX20 TBX3 TBX4 TBX5 TBX6 TCF12 TCF4 TCIRG1 TCOF1 TCP1 TCTEX1D2 TCTN1 TCTN2 TCTN3 TELO2 TENM3 TFAP2A TFAP2B TGDS TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 TGM1 THOC2 THOC6 THRA THSD1 THUMPD1 TINF2 TK2 TMCO1 TMEM107 TMEM138 TMEM165 TMEM167A TMEM17 TMEM216 TMEM218 TMEM231 TMEM237 TMEM251 TMEM260 TMEM38B TMEM5 TMEM67 TMEM70 TMEM94 TMEM98 TMTC3 TMX2 TNNI2 TNNT1 TNNT3 TOE1 TOGARAM1 TONSL TOP3A TOR1A TOR1AIP1 TP53RK TP63 TP73 TPM2 TPM3 TPRKB TRAF3IP1 TRAF7 TRAIP TRAP1 TRAPPC12 TRAPPC9 TREX1 TRIM37 TRIM71 TRIO TRIP11 TRIP12 TRIP4 TRIT1 TRMT10A TRPS1 TRPV4 TRPV6 TRRAP TSC1 TSC2 TSEN15 TSEN2 TSEN34 TSEN54 TSFM TSHZ3 TTC21B TTC26 TTC37 TTC7A TTC8 TTN TUBA1A TUBB TUBB2A TUBB2B TUBB3 TUBB4A TUBG1 TUBGCP2 TUBGCP4 TUBGCP6 TWIST1 TWIST2 TXNDC15 TXNL4A U2AF2 UBA1 UBA2 UBE2T UBE3B UBR1 UBR7 UFSP2 UGGT1 UMPS UNC13D UQCRFS1 UROS USP14 USP18 USP9X VAMP1 VEGFC VIPAS39 VLDLR VPS13B VPS33A VPS33B VPS4A VPS50 VPS51 VPS53 VRK1 VSX2 WASHC5 WBP11 WBP4 WDPCP WDR19 WDR26 WDR34 WDR35 WDR37 WDR4 WDR44 WDR47 WDR60 WDR62 WDR73 WDR81 WDR91 WLS WNK3 WNT1 WNT10B WNT5A WNT7A WNT7B WRAP53 WSB2 WT1 WWOX XRCC4 XYLT1 XYLT2 YRDC YY1 YY1AP1 ZBTB18 ZBTB20 ZBTB7A ZC4H2 ZEB1 ZEB2 ZFP57 ZFX ZIC1 ZIC2 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZMYND10 ZNF335 ZNF462 ZNF526 ZNF668 ZNF699 ZPR1 ZRSR2 ZSWIM6 AARS AASS ABCD4 ABHD16A ACO2 ADAMTS19 ADAMTS9 AIFM1 AIMP1 AIMP2 ALG11 ALG13 ALKBH8 AMOT ANKRD17 ANKRD26 AP3B2 AP4M1 ARF1 ARHGEF40 ARV1 ASCC3 ATP11C ATP1A3 ATP6V0A1 AXIN1 BAIAP2 BANF1 BAZ2B BCAS3 BCL9L BHLHE22 BICRA BLOC1S6 BNIP1 BOLA3 BUB1 C14orf80 C1GALT1C1 CA5A CACNA1A CACNA1D CALCRL CAMK2A CAMK2B CAMTA1 CAPN15 CAPRIN1 CARS2 CCDC78 CCP110 CCT3 CCT8 CD40LG CD96 CDC40 CDH11 CDK20 CDX1 CELSR3 CFI CHAF1A CHD3 CHD8 CHRM3 CHRNB2 CITED2 CLCF1 CLPP CNKSR2 CNTN1 COA6 COL27A1 COLGALT1 COPB2 COX14 CPAMD8 CPOX CRELD1 CSMD1 CTDP1 CUL3 CUX2 CWF19L1 CYB5R3 DAND5 DCDC2 DDR1 DDX23 DGUOK DHDDS DHPS DHRS3 DHTKD1 DIP2C DLG3 DLG4 DNAJC12 DNAJC19 DNAJC21 DNM1 DOCK7 DOHH DRC1 DSG1 DVL2 EDN1 EDN3 EEF1A2 EFEMP1 EIF3B EIF3F ELMO2 EMC1 EMILIN1 EMX2 ENPP5 ERG ETV2 EXOSC1 EXOSC5 FAM177A1 FAM92A FANCM FBXO22 FBXW11 FEZF1 FGF16 FGF9 FIBP FKBP8 FLII FMN2 FOXL2 FOXP2 FRRS1L FRYL FSD1L FUCA1 FZD6 G6PD GABRA1 GABRB2 GABRG2 GATA5 GDF2 GFM2 GLMN GM2A GNA11 GNA14 GNB5 GNPNAT1 GNS GPC4 GRHL2 GRIN2D GSPT2 GTF2E2 GTPBP1 HDAC2 HECTD1 HERC1 HEY2 HGSNAT HIRA HIST1H4C HOXB1 HPD IGFBP7 IKZF1 IKZF2 INPP5K INTS13 IQCE JPH1 KAT5 KBTBD2 KCNB1 KCNH1 KCNH2 KCNN3 KCNN4 KCNT1 KDM1A KDM5A KDM6B KDR KIAA0825 KIF21B KMT2E KPTN KRT74 LDB3 LIAS LINC01578 LINS1 LIPT1 LRIG2 LRRC8C LRRK1 LSM11 MAL MAMLD1 MAN1B1 MAN2B2 MANBA MAP1B MAT1A MBOAT7 MBTPS1 MDH2 MECR MED17 MGAT2 MIR17HG MITF MLH1 MMP15 MMP2 MMP9 MPC1 MPC2 MPL MPZ MRPS14 MRPS16 MRPS34 MSH2 MSH6 MTPAP MT-TE MT-TL1 MVK MYBPC3 MYL2 MYLK MYSM1 NAA15 NADK2 NAGLU NAXE NCAPD2 NDUFA10 NDUFAF2 NDUFC2 NDUFV2 NEUROD1 NEXMIF NHP2 NID1 NKX6-2 NMNAT1 NMNAT2 NOTCH3 NPNT NTRK2 NUDCD2 NUP214 NUP62 NUP88 NUS1 ORAI1 PAM16 PARP6 PATJ PCLO PDCD6IP PDE10A PDE12 PDE6D PDE6H PDSS1 PHEX PHLDB1 PIGC PIGM PIGQ PIGY PISD PKP2 PLCB1 PLOD3 PLVAP PLXNB2 PMS2 POLA1 POLD1 POLG POU3F3 PPP1R13L PREPL PRKG2 PROC PSMC3 PTH PURA PYCR2 PYROXD1 QARS RAD51C RASA2 RBFOX2 RHOA RIN2 RINT1 RNF13 RNF2 RNPC3 RNU2-2P RNU5A-1 RORA RPS23 RREB1 SACS SCNN1B SCYL1 SEC31A SECISBP2 SEL1L SEPHS1 SET SF3B2 SFXN4 SGSH SH3BP2 SHANK1 SHANK2 SHROOM3 SIAH1 SIRT6 SLC13A1 SLC19A1 SLC1A2 SLC22A5 SLC25A1 SLC25A22 SLC25A26 SLC30A5 SLC30A7 SLC34A3 SLC35A1 SLC45A1 SLC4A1 SLC6A17 SMAD5 SMPD1 SNAP29 SNAPC4 SNUPN SOX5 SPIN4 SPOP SPRED2 SPTAN1 SPTBN1 SRP54 ST3GAL3 ST3GAL5 STAT3 STAT5B STIM1 STX11 STX1B SUCLA2 SYN1 SYT2 SZT2 TACO1 TAF13 TBC1D1 TBX22 TCF20 TECPR2 TEK TKT TLK2 TLL1 TMEM263 TMEM65 TMPRSS7 TNFRSF11A TOMM7 TPM1 TRAPPC11 TRIM32 TRIP13 TRMT10C TRNT1 TRPV3 TTC25 TUBA8 TUFM TXN2 UBTF UNC50 UQCC2 UQCRB UQCRQ USP27X VARS2 VCP VDR WARS2 WDHD1 WDR11 WNT3 WNT4 WNT9B XPNPEP3 YAP1 YIF1B YWHAE YWHAG ZBTB24 ZDHHC9 ZFPM2 ZMYND11 ZMYND8 ZNF423 ZNF865 ZNHIT3 ZNRF3 ZSCAN10

Methodology

Capture-based target enrichment and Next Generation Sequencing.

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