- Panels
- Fetal anomalies
- SOX2
- AARS 1
- ABCA12 1
- ABCC6 2
- ABCC9 1
- ABHD16A 2
- ABL1 2
- ACAD9 1
- ACADVL 1
- ACAN 1
- ACE 1
- ACOX1 1
- ACP5 1
- ACSL4 2
- ACTA1 1
- ACTA2 1
- ACTB 1
- ACTC1 2
- ACTG1 1
- ACTG2 1
- ACVR1 1
- ACVRL1 1
- ACY1 1
- ADAMTS10 2
- ADAMTS15 1
- ADAMTS17 1
- ADAMTS19 2
- ADAMTS3 1
- ADAMTSL2 1
- ADCY6 1
- ADD1 1
- ADGRG1 1
- ADGRG6 3
- ADNP 1
- ADSL 1
- AFF3 1
- AFF4 2
- AGK 1
- AGPS 1
- AGT 1
- AGTR1 1
- AHDC1 1
- AHI1 3
- AIMP1 1
- AKT1 1
- AKT2 1
- AKT3 2
- AL117258.1 1
- ALB 1
- ALDH18A1 1
- ALDH1A2 2
- ALDH1A3 1
- ALG1 2
- ALG12 2
- ALG14 2
- ALG3 1
- ALG6 2
- ALG8 1
- ALG9 1
- ALMS1 1
- ALPK3 2
- ALPL 1
- ALX1 1
- ALX3 1
- ALX4 1
- AMBRA1 1
- AMER1 1
- AMOTL1 1
- AMPD2 1
- AMT 1
- ANAPC1 3
- ANGPT2 1
- ANKH 1
- ANKLE2 1
- ANKRD11 1
- ANKRD17 1
- ANKS6 2
- ANOS1 1
- ANTXR1 1
- ANTXR2 1
- AP1S2 1
- AP4B1 2
- AP4E1 1
- AP4M1 2
- AP4S1 2
- APC2 2
- AR 2
- ARCN1 2
- ARF1 2
- ARFGEF2 1
- ARHGAP29 1
- ARHGAP31 1
- ARID1A 2
- ARID1B 2
- ARID2 2
- ARL13B 1
- ARL3 1
- ARL6 1
- ARMC4 1
- ARMC9 1
- ARSB 1
- ARSE 1
- ARX 1
- ASAH1 1
- ASCC1 1
- ASNS 1
- ASPA 1
- ASPM 1
- ASXL1 1
- ASXL2 1
- ATAD1 2
- ATAD3A 1
- ATIC 1
- ATN1 1
- ATP1A2 2
- ATP1A3 3
- ATP5O 1
- ATP6V0A2 1
- ATP6V1B2 1
- ATP7A 1
- ATR 1
- ATRX 1
- AUTS2 1
- B3GALNT2 1
- B3GALT6 1
- B3GAT3 1
- B3GLCT 2
- B4GALT7 1
- B4GAT1 2
- B9D1 2
- B9D2 1
- BBS1 1
- BBS10 1
- BBS12 1
- BBS2 1
- BBS4 1
- BBS5 1
- BBS7 1
- BBS9 1
- BCAP31 1
- BCAS3 2
- BCL11A 1
- BCOR 1
- BCS1L 1
- BFSP2 1
- BHLHA9 1
- BICD2 2
- BIN1 1
- BLM 2
- BMP1 1
- BMP2 1
- BMP4 1
- BMPER 1
- BMPR1B 1
- BNC2 1
- BRAF 1
- BRAT1 1
- BRCA1 1
- BRCA2 2
- BRD4 1
- BRF1 1
- BRIP1 2
- BRPF1 1
- BSND 1
- BUB1B 2
- C11orf70 1
- C12orf57 1
- C16orf62 2
- C1orf127 1
- C1QBP 1
- C21orf2 1
- C21orf59 1
- C2CD3 3
- C2orf69 2
- C5orf42 1
- CA2 1
- CACHD1 1
- CACNA1C 2
- CACNA1D 1
- CACNA1E 2
- CANT1 1
- CAPN15 1
- CASK 1
- CASP2 1
- CBL 1
- CC2D2A 1
- CCBE1 1
- CCDC103 1
- CCDC114 1
- CCDC151 1
- CCDC22 1
- CCDC39 1
- CCDC40 1
- CCDC8 1
- CCDC88C 2
- CCND2 2
- CDAN1 1
- CDC45 1
- CDH1 1
- CDH3 1
- CDK10 1
- CDK13 3
- CDK5RAP2 1
- CDK8 1
- CDKL5 2
- CDKN1C 1
- CDON 2
- CDT1 1
- CDX2 2
- CELSR1 2
- CELSR3 1
- CENPF 3
- CENPJ 1
- CEP104 1
- CEP120 3
- CEP135 1
- CEP152 1
- CEP164 1
- CEP290 1
- CEP41 1
- CEP55 1
- CEP57 1
- CEP83 1
- CEP85L 2
- CFAP45 1
- CFAP52 1
- CFAP53 1
- CFC1 1
- CFTR 1
- CHAMP1 2
- CHAT 1
- CHD4 3
- CHD7 1
- CHKB 1
- CHMP1A 1
- CHRNA1 1
- CHRNA3 1
- CHRNB1 1
- CHRND 1
- CHRNE 1
- CHRNG 1
- CHST14 2
- CHST3 1
- CHSY1 1
- CIT 1
- CITED2 2
- CKAP2L 2
- CLCN7 1
- CLCNKB 1
- CLMP 1
- CLP1 1
- CLPB 1
- CLTC 2
- CNOT2 1
- CNOT3 2
- CNTNAP1 1
- CNTNAP2 1
- COASY 4
- COG1 1
- COG4 2
- COG5 1
- COG6 1
- COG7 1
- COG8 2
- COL10A1 1
- COL11A1 1
- COL11A2 1
- COL12A1 1
- COL13A1 1
- COL18A1 2
- COL1A1 1
- COL1A2 1
- COL25A1 1
- COL27A1 1
- COL2A1 1
- COL3A1 1
- COL4A1 2
- COL4A2 2
- COL6A1 1
- COL6A2 1
- COL6A3 1
- COL9A1 2
- COL9A2 2
- COL9A3 1
- COLEC10 1
- COLEC11 1
- COLGALT1 2
- COQ4 1
- COQ7 1
- COQ9 1
- COX7B 1
- CPAMD8 1
- CPT2 1
- CRADD 1
- CRB2 1
- CREB3L1 1
- CREBBP 2
- CRIPT 3
- CRLF1 1
- CRTAP 1
- CRYAA 1
- CRYBA1 1
- CRYBA4 1
- CRYBB1 1
- CRYBB2 1
- CRYBB3 1
- CRYGC 1
- CRYGD 1
- CSF1R 1
- CSMD1 1
- CSNK2A1 2
- CSPP1 1
- CTC1 1
- CTCF 3
- CTDP1 1
- CTNNA2 1
- CTNNB1 2
- CTNND1 1
- CTSA 1
- CTSD 1
- CTSK 1
- CTU2 2
- CUL3 1
- CUL4B 1
- CUL7 1
- CWC27 1
- CWF19L1 1
- CYP11A1 1
- CYP11B1 1
- CYP17A1 1
- CYP1B1 1
- CYP21A2 1
- CYP26B1 1
- D2HGDH 2
- DARS 1
- DCC 1
- DCHS1 1
- DCX 1
- DDR2 1
- DDX11 2
- DDX3X 1
- DDX59 2
- DDX6 1
- DEAF1 1
- DENND5A 1
- DEPDC5 2
- DHCR24 1
- DHCR7 4
- DHODH 1
- DHRSX 1
- DIAPH1 1
- DICER1 1
- DIS3L2 1
- DISP1 1
- DKC1 1
- DLG5 1
- DLL1 2
- DLL3 1
- DLL4 1
- DLX5 1
- DMPK 2
- DNA2 1
- DNAAF1 1
- DNAAF2 1
- DNAAF3 1
- DNAAF4 1
- DNAAF5 1
- DNAH11 1
- DNAH5 1
- DNAH9 1
- DNAI1 1
- DNAI2 1
- DNAJB11 1
- DNAJC19 2
- DNM1L 2
- DNMT3A 2
- DNMT3B 2
- DOCK6 1
- DOCK7 2
- DOHH 1
- DOK7 1
- DONSON 1
- DPAGT1 1
- DPF2 2
- DPH1 1
- DPM1 2
- DPM2 1
- DRG1 1
- DSP 2
- DVL1 1
- DVL3 1
- DYM 1
- DYNC1H1 1
- DYNC1I1 1
- DYNC1I2 1
- DYNC2H1 1
- DYNC2LI1 1
- DYRK1A 3
- EBF3 1
- EBP 1
- ECEL1 1
- EDN3 1
- EDNRA 1
- EDNRB 1
- EED 2
- EEF2 1
- EFCAB1 1
- EFEMP2 1
- EFNB1 2
- EFTUD2 1
- EHBP1L1 2
- EHMT1 1
- EIF2AK3 2
- EIF2B2 2
- EIF2S3 1
- EIF3F 1
- EIF4A3 1
- EIF5A 1
- ELAC2 1
- ELN 1
- ELOVL4 2
- EMC1 1
- EML1 1
- EN1 1
- EOGT 2
- EP300 1
- EPG5 1
- EPHB4 1
- ERBB3 1
- ERCC1 1
- ERCC2 2
- ERCC3 1
- ERCC4 2
- ERCC5 2
- ERCC6 2
- ERCC8 2
- ERF 1
- ERGIC1 1
- ERI1 1
- ESAM 2
- ESCO2 3
- ETFA 1
- ETFB 1
- ETFDH 1
- EVC 4
- EVC2 2
- EXOC3L2 2
- EXOC7 2
- EXOSC3 1
- EXOSC5 1
- EXOSC8 1
- EXOSC9 1
- EXT1 1
- EXT2 1
- EXTL3 1
- EYA1 1
- EZH2 1
- FAM111A 1
- FAM126A 1
- FAM149B1 1
- FAM20C 1
- FAM46A 1
- FAM58A 1
- FANCA 2
- FANCB 2
- FANCC 2
- FANCD2 2
- FANCE 2
- FANCF 2
- FANCG 2
- FANCI 2
- FANCL 1
- FAR1 2
- FAT1 1
- FAT4 1
- FBLN5 1
- FBN1 2
- FBN2 2
- FBRSL1 1
- FBXL4 1
- FBXW11 1
- FGD1 1
- FGF10 1
- FGF3 1
- FGF8 2
- FGF9 1
- FGFR1 2
- FGFR2 1
- FGFR3 1
- FH 1
- FIG4 2
- FILIP1 2
- FKBP10 1
- FKBP14 2
- FKRP 3
- FKTN 2
- FLNA 1
- FLNB 1
- FLNC 1
- FLT4 2
- FLVCR1 1
- FLVCR2 2
- FOSL2 2
- FOXC1 2
- FOXC2 1
- FOXE1 1
- FOXE3 1
- FOXF1 1
- FOXG1 2
- FOXJ1 1
- FOXP3 2
- FOXRED1 1
- FRA10AC1 2
- FRAS1 1
- FREM1 1
- FREM2 1
- FRMPD4 1
- FRYL 2
- FTL 1
- FTO 2
- FUT8 1
- FUZ 2
- FYCO1 1
- FZD2 1
- G6PC3 2
- GAA 1
- GABRB2 1
- GALE 1
- GALK1 2
- GALNS 2
- GATA1 2
- GATA3 1
- GATA4 1
- GATA6 1
- GBA 1
- GBE1 1
- GCDH 1
- GDF1 1
- GDF11 1
- GDF5 1
- GDF6 1
- GFAP 1
- GFM1 1
- GFRA1 2
- GHR 1
- GJA1 1
- GJA3 2
- GJA8 1
- GJC2 2
- GLB1 1
- GLDN 1
- GLE1 1
- GLI1 1
- GLI2 2
- GLI3 2
- GLIS2 2
- GLIS3 1
- GLUL 2
- GMNN 1
- GMPPB 1
- GNAI3 1
- GNAO1 1
- GNAS 2
- GNB1 1
- GNPAT 1
- GNPTAB 1
- GNS 1
- GON4L 1
- GORAB 2
- GPC3 1
- GPC6 2
- GPI 1
- GPSM2 2
- GPX4 1
- GREB1L 2
- GRHL3 1
- GRIN1 2
- GRIN2B 2
- GRIP1 1
- GRM7 1
- GSC 1
- GTF2H5 1
- GTPBP2 1
- GTPBP3 2
- GUCY2C 2
- GUSB 1
- GZF1 1
- H3F3A 1
- HAAO 1
- HADHA 2
- HADHB 1
- HBA1 2
- HBA2 2
- HCCS 1
- HCFC1 1
- HDAC8 1
- HERC1 1
- HES7 1
- HESX1 1
- HHAT 1
- HIBCH 2
- HIST1H1E 1
- HIST1H4C 3
- HIVEP2 1
- HMGA2 1
- HMGB1 2
- HMX1 1
- HNF1B 1
- HNF4A 1
- HNRNPH2 1
- HNRNPK 3
- HOXA1 2
- HOXA13 1
- HOXA2 1
- HOXD13 1
- HPSE2 1
- HRAS 1
- HS2ST1 1
- HSD17B3 1
- HSD17B4 1
- HSPA9 1
- HSPD1 2
- HSPG2 2
- HUWE1 1
- HYAL2 1
- HYLS1 2
- IARS 2
- ICK 2
- IDS 2
- IDUA 2
- IER3IP1 1
- IFIH1 2
- IFITM5 1
- IFT122 1
- IFT140 1
- IFT172 1
- IFT27 1
- IFT43 1
- IFT52 1
- IFT74 1
- IFT80 1
- IGF1 1
- IGF1R 1
- IGF2 2
- IGHMBP2 1
- IHH 1
- IKBKG 2
- IL11RA 1
- IMPAD1 1
- INPP5E 1
- INPPL1 1
- INSR 1
- INTS1 1
- INTS13 1
- INTU 1
- INVS 1
- IQCE 1
- IRF6 1
- IRX5 1
- ISPD 2
- ITGA3 1
- ITGA6 1
- ITGA8 1
- ITGB4 1
- JAG1 1
- JAM3 1
- KANSL1 1
- KAT5 1
- KAT6A 1
- KAT6B 2
- KATNB1 1
- KBTBD2 1
- KCNH1 2
- KCNJ1 1
- KCNJ2 1
- KCNJ8 1
- KCNK3 1
- KCNQ1 1
- KDM1A 1
- KDM2B 1
- KDM5C 1
- KDM6A 1
- KDM6B 1
- KDR 1
- KIAA0556 1
- KIAA0586 3
- KIAA0753 2
- KIAA0825 1
- KIAA1109 1
- KIDINS220 1
- KIF11 2
- KIF14 2
- KIF1A 2
- KIF1BP 2
- KIF21B 1
- KIF22 2
- KIF26A 1
- KIF2A 1
- KIF4A 1
- KIF5B 1
- KIF5C 1
- KIF7 1
- KLF1 3
- KLHL40 1
- KLHL41 1
- KLHL7 1
- KMT2A 1
- KMT2C 1
- KMT2D 3
- KNL1 1
- KRAS 1
- KYNU 1
- L1CAM 2
- LAGE3 1
- LAMA1 1
- LAMA2 2
- LAMB1 1
- LAMC3 2
- LARGE1 2
- LARP7 1
- LARS2 1
- LBR 1
- LDB1 1
- LFNG 1
- LGI4 1
- LIFR 2
- LIG4 4
- LIPA 2
- LMBR1 1
- LMNA 1
- LMNB1 1
- LMNB2 1
- LMOD3 1
- LMX1B 1
- LNPK 1
- LONP1 3
- LRIG2 1
- LRP2 1
- LRP4 1
- LRP5 1
- LRRC56 1
- LRRC6 1
- LTBP1 1
- LTBP3 1
- LTBP4 1
- LZTFL1 2
- LZTR1 2
- MAB21L1 1
- MAB21L2 1
- MACF1 1
- MAF 1
- MAGEL2 2
- MAMLD1 1
- MAN2C1 2
- MAP1B 1
- MAP2K1 1
- MAP2K2 1
- MAP3K1 2
- MAP3K20 2
- MAP3K7 1
- MAP4K4 1
- MAPK1 1
- MAPK8IP3 1
- MAPKAPK5 1
- MAPRE2 1
- MASP1 1
- MAST1 1
- MATN3 2
- MAX 2
- MBTPS1 2
- MBTPS2 1
- MCIDAS 1
- MCOLN1 1
- MCPH1 1
- MDFIC 2
- MECOM 1
- MED12 1
- MED13L 2
- MED17 1
- MED25 1
- MED27 1
- MEF2C 1
- MEGF10 2
- MEGF8 2
- MEIS2 1
- MEOX1 1
- MESD 2
- MESP2 1
- MFSD2A 1
- MGP 2
- MID1 2
- MINPP1 1
- MITF 1
- MKKS 2
- MKS1 1
- MLC1 1
- MLYCD 2
- MMACHC 1
- MMP21 2
- MN1 2
- MNS1 1
- MNX1 2
- MOCS1 2
- MOCS2 1
- MOGS 2
- MPDU1 2
- MPDZ 1
- MPLKIP 2
- MPZ 2
- MRAS 1
- MRPS22 1
- MSL3 2
- MSMO1 2
- MSTO1 1
- MSX1 1
- MSX2 1
- MTM1 2
- MTO1 2
- MTOR 2
- MTX2 1
- MUSK 2
- MVK 1
- MYBBP1A 1
- MYBPC1 2
- MYBPC3 1
- MYCN 3
- MYH10 2
- MYH11 1
- MYH2 1
- MYH3 2
- MYH6 1
- MYH7 3
- MYH8 1
- MYL9 1
- MYMK 2
- MYO18B 1
- MYOCD 1
- MYOD1 1
- MYRF 1
- MYT1 2
- NAA10 1
- NAA15 2
- NACC1 3
- NADSYN1 1
- NALCN 1
- NANS 1
- NARS 2
- NBAS 1
- NBN 2
- NCAPD2 1
- NDE1 1
- NDP 3
- NDUFAF5 2
- NDUFB11 1
- NEB 1
- NECTIN1 1
- NECTIN4 1
- NEDD4L 2
- NEK1 1
- NEK8 1
- NEU1 1
- NEXN 1
- NF1 2
- NFIA 1
- NFIB 1
- NFIX 2
- NHEJ1 3
- NHS 2
- NID1 1
- NIPBL 2
- NKX2-5 1
- NKX2-6 2
- NKX3-2 1
- NME8 2
- NONO 1
- NOTCH1 1
- NOTCH2 1
- NOVA2 1
- NPC1 1
- NPHP1 1
- NPHP3 1
- NPHP4 2
- NPHS1 1
- NPNT 2
- NPR2 1
- NPRL2 1
- NPRL3 1
- NR2F2 2
- NR5A1 1
- NRAS 1
- NSD1 1
- NSD2 1
- NSDHL 3
- NSRP1 1
- NUBPL 1
- NUDT2 1
- NUP107 1
- NUP188 1
- NUP88 1
- NXN 1
- OBSL1 1
- OCLN 1
- OCRL 1
- OFD1 1
- OPHN1 1
- ORAI1 2
- ORC1 1
- ORC4 2
- ORC6 2
- OSGEP 1
- OSTM1 1
- OTUD5 2
- OTUD6B 1
- OTX2 1
- P3H1 1
- P4HB 1
- PACS1 2
- PACS2 1
- PAFAH1B1 1
- PAK3 1
- PALB2 1
- PAM16 1
- PAN2 2
- PAPSS2 2
- PARN 2
- PARP6 1
- PAX2 2
- PAX3 1
- PAX6 2
- PBX1 1
- PCDH12 1
- PCGF2 1
- PCNT 1
- PDCD10 1
- PDE12 1
- PDE3A 1
- PDE4D 1
- PDE6D 1
- PDGFRB 1
- PDHA1 1
- PET100 1
- PEX1 1
- PEX10 2
- PEX11B 2
- PEX12 2
- PEX13 2
- PEX14 2
- PEX16 2
- PEX19 2
- PEX2 2
- PEX26 2
- PEX3 2
- PEX5 2
- PEX6 1
- PEX7 1
- PGAP1 1
- PGAP2 1
- PGAP3 1
- PGM1 1
- PHEX 1
- PHF21A 2
- PHF5A 1
- PHF8 1
- PHGDH 1
- PHOX2B 1
- PI4KA 1
- PIBF1 2
- PIDD1 2
- PIEZO1 2
- PIEZO2 2
- PIGA 1
- PIGH 2
- PIGL 2
- PIGN 2
- PIGO 1
- PIGT 2
- PIGV 1
- PIH1D3 1
- PIK3C2A 1
- PIK3CA 1
- PIK3R1 1
- PIK3R2 1
- PIP5K1C 2
- PITX1 1
- PITX2 1
- PITX3 1
- PKD1 1
- PKD1L1 3
- PKD2 1
- PKHD1 1
- PKLR 1
- PKP2 2
- PLAA 1
- PLAG1 1
- PLCB4 2
- PLD1 1
- PLEC 1
- PLG 1
- PLK4 2
- PLOD1 1
- PLOD2 1
- PLOD3 1
- PLPBP 1
- PLS3 3
- PLXND1 1
- PMM2 2
- PNKP 1
- POC1A 1
- POGZ 1
- POLD1 1
- POLE 2
- POLR1A 1
- POLR1B 1
- POLR1C 1
- POLR1D 1
- POLR3A 2
- POMGNT1 1
- POMGNT2 1
- POMK 2
- POMT1 2
- POMT2 2
- POP1 1
- POR 1
- PORCN 1
- POU1F1 1
- PPFIBP1 1
- PPIB 1
- PPIL1 1
- PPP1CB 2
- PPP1R12A 1
- PPP1R13L 1
- PPP2CA 1
- PPP2R1A 2
- PPP2R3C 1
- PPP2R5D 1
- PQBP1 1
- PRF1 2
- PRG4 1
- PRKACA 1
- PRKACB 1
- PRKAG2 1
- PRKAR1A 1
- PRKD1 3
- PRMT7 1
- PRR12 1
- PRRX1 1
- PRSS56 1
- PRUNE1 1
- PSAT1 1
- PSMF1 1
- PSPH 1
- PTCH1 2
- PTDSS1 1
- PTF1A 1
- PTH1R 1
- PTPN11 1
- PTPN14 1
- PTPN23 1
- PTS 1
- PUF60 1
- PXDN 1
- PYCR1 1
- QARS 1
- RAB11B 1
- RAB18 2
- RAB23 1
- RAB34 1
- RAB3GAP1 2
- RAB3GAP2 2
- RAC1 1
- RAD21 2
- RAD50 1
- RAD51 1
- RAD51C 1
- RAF1 1
- RAI1 1
- RAP1B 2
- RAPSN 1
- RARB 1
- RARS2 1
- RASA1 2
- RAX 2
- RBBP8 1
- RBFOX2 2
- RBM10 2
- RBM8A 1
- RBP4 1
- RBPJ 1
- RECQL4 1
- RELN 1
- REN 2
- RERE 1
- RET 2
- RFX6 1
- RHEB 1
- RIN2 1
- RIPK4 1
- RIT1 1
- RLIM 1
- RMND1 2
- RMRP 1
- RNASEH2A 1
- RNASEH2B 1
- RNASEH2C 1
- RNF113A 1
- RNF125 1
- RNU12 1
- RNU4ATAC 1
- ROBO1 1
- ROBO2 1
- ROBO3 1
- ROGDI 1
- ROR2 1
- RPGRIP1L 1
- RPL10 2
- RPL11 2
- RPL15 1
- RPL26 1
- RPL35A 1
- RPL5 1
- RPS10 1
- RPS17 1
- RPS19 1
- RPS24 1
- RPS26 1
- RPS6KA3 1
- RPS7 1
- RRAS2 1
- RSPO2 1
- RTEL1 1
- RTTN 1
- RUNX2 1
- RYR1 1
- SALL1 1
- SALL4 1
- SAMD9 1
- SAMHD1 1
- SASS6 2
- SATB2 1
- SBDS 1
- SC5D 2
- SCAF4 2
- SCARF2 1
- SCLT1 3
- SCN1A 1
- SCN2A 2
- SCN3A 2
- SCN4A 2
- SCN5A 2
- SCNN1A 1
- SCNN1B 1
- SCNN1G 1
- SCO2 2
- SCUBE3 1
- SDCCAG8 1
- SEC23B 1
- SEC24D 1
- SEMA3A 1
- SENP7 2
- SEPSECS 1
- SERPINH1 2
- SETBP1 2
- SETD2 1
- SETD5 2
- SF3B2 1
- SF3B4 1
- SGPL1 2
- SH3PXD2B 1
- SHH 3
- SHMT2 1
- SHOC2 1
- SHOX 1
- SHROOM4 2
- SIL1 2
- SIN3A 1
- SIX3 3
- SKI 2
- SKIV2L 2
- SLC10A7 1
- SLC12A1 1
- SLC12A6 1
- SLC13A5 1
- SLC17A5 1
- SLC20A1 1
- SLC25A24 2
- SLC25A4 2
- SLC26A2 3
- SLC26A3 1
- SLC27A4 1
- SLC29A3 2
- SLC2A10 2
- SLC33A1 1
- SLC35A2 2
- SLC35D1 1
- SLC39A8 1
- SLC5A5 1
- SLC5A7 1
- SLC6A9 1
- SLX4 1
- SMAD2 1
- SMAD3 1
- SMAD4 1
- SMAD6 1
- SMARCA2 1
- SMARCA4 1
- SMARCAL1 1
- SMARCB1 1
- SMARCC1 1
- SMARCE1 1
- SMC1A 1
- SMC3 1
- SMCHD1 2
- SMG9 1
- SMN1 1
- SMO 2
- SMOC1 1
- SMPD1 1
- SMPD4 2
- SNAP29 1
- SNORD118 1
- SNRPB 1
- SON 1
- SOS1 1
- SOS2 1
- SOST 2
- SOX10 2
- SOX11 2
- SOX18 1
- SOX2 1
- SOX6 2
- SOX9 1
- SPAG1 2
- SPATA5 2
- SPECC1L 1
- SPEG 2
- SPEN 1
- SPINT2 2
- SPRED2 2
- SPTA1 1
- SRCAP 2
- SRD5A2 1
- SRD5A3 2
- SRY 1
- STAC3 2
- STAG2 2
- STAMBP 1
- STAR 3
- STAT3 2
- STIL 1
- STIM1 1
- STK4 1
- STRA6 1
- STRADA 1
- STT3A 1
- SUCLG1 2
- SUFU 2
- SUMF1 2
- SUZ12 2
- SYNE1 1
- SYT2 1
- SZT2 1
- TAB2 1
- TAF1 2
- TALDO1 1
- TAOK1 1
- TAZ 1
- TBC1D1 1
- TBC1D20 2
- TBC1D24 1
- TBC1D32 1
- TBCD 2
- TBCE 1
- TBCK 1
- TBX1 2
- TBX15 1
- TBX18 1
- TBX20 1
- TBX22 1
- TBX3 1
- TBX4 1
- TBX5 1
- TBX6 1
- TCF12 1
- TCF4 1
- TCIRG1 1
- TCOF1 1
- TCTEX1D2 1
- TCTN1 1
- TCTN2 1
- TCTN3 2
- TELO2 1
- TENM3 1
- TFAP2A 2
- TFAP2B 2
- TG 1
- TGDS 1
- TGFB2 1
- TGFB3 1
- TGFBR1 3
- TGFBR2 2
- TGIF1 1
- THOC2 2
- THOC6 1
- THRA 1
- THSD1 1
- TINF2 1
- TLK2 1
- TLL1 1
- TMCO1 1
- TMEM107 2
- TMEM138 1
- TMEM165 1
- TMEM216 2
- TMEM218 1
- TMEM231 2
- TMEM237 1
- TMEM260 1
- TMEM38B 1
- TMEM5 1
- TMEM67 1
- TMEM94 1
- TMEM98 1
- TMTC3 1
- TMX2 2
- TNFRSF11A 1
- TNNI2 1
- TNNT1 1
- TNNT3 1
- TOE1 1
- TOP2B 1
- TOP3A 1
- TOR1A 2
- TOR1AIP1 2
- TP63 2
- TP73 1
- TPM2 2
- TPM3 1
- TPO 1
- TRAF3IP1 1
- TRAF7 2
- TRAIP 1
- TRAP1 1
- TRAPPC11 3
- TRAPPC12 1
- TRAPPC9 2
- TREX1 1
- TRIM37 2
- TRIM71 1
- TRIO 1
- TRIP11 2
- TRIP4 1
- TRIT1 1
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- TRPV4 1
- TRPV6 2
- TRRAP 1
- TSC1 1
- TSC2 1
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- TSEN2 2
- TSEN54 1
- TSFM 1
- TSHR 1
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- TTC25 1
- TTC7A 1
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- TTI2 1
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- TUBB2B 1
- TUBB3 1
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- TUBGCP2 1
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- TUBGCP6 2
- TUFM 2
- TWIST1 1
- TWIST2 1
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- TXNL4A 1
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- UBE2T 1
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- UROS 1
- USP14 2
- USP18 3
- USP9X 1
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- VIPAS39 2
- VLDLR 1
- VPS33B 2
- VPS4A 1
- VPS53 2
- VRK1 1
- VSX2 1
- WASHC5 3
- WBP11 1
- WBP4 1
- WDPCP 1
- WDR19 2
- WDR34 2
- WDR35 1
- WDR37 1
- WDR4 1
- WDR44 2
- WDR60 1
- WDR62 1
- WDR73 2
- WLS 2
- WNT1 2
- WNT10B 1
- WNT5A 2
- WNT7A 1
- WNT7B 1
- WT1 1
- WWOX 2
- XRCC4 1
- XYLT1 2
- XYLT2 2
- YAP1 2
- YIF1B 1
- YIPF5 1
- YRDC 1
- YY1 1
- ZBTB18 2
- ZBTB20 2
- ZBTB24 1
- ZC4H2 2
- ZEB2 1
- ZFP57 2
- ZFPM2 2
- ZIC1 2
- ZIC2 2
- ZIC3 2
- ZMIZ1 1
- ZMPSTE24 1
- ZMYM2 1
- ZMYND10 1
- ZMYND8 1
- ZNF335 1
- ZNF462 2
- ZNF526 2
- ZNF699 1
- ZNHIT3 1
- ZRSR2 2
- ZSWIM6 3
- ABCD4 1
- ABHD5 1
- ACO2 1
- ADARB1 1
- AGRN 1
- AHCY 2
- AIFM1 1
- ALG11 2
- ALG13 3
- AP3B2 1
- ASPH 1
- ASTN1 1
- ASXL3 2
- ATP11A 2
- ATP9A 1
- ATXN2L 1
- B3GNT2 2
- BCL9L 2
- BCORL1 1
- BMP3 1
- BOLA3 1
- BPTF 1
- BRWD3 1
- C7orf43 1
- C8orf37 1
- CACNA1G 2
- CAMK2B 2
- CCDC28B 1
- CCDC88A 1
- CDK5 2
- CDK6 1
- CEP63 1
- CHD3 1
- CHD8 1
- CHST11 1
- CHUK 1
- CLPP 1
- CNOT1 4
- CNTN1 1
- COX10 1
- COX15 1
- CRELD1 1
- CYB5R3 1
- DAG1 2
- DBR1 1
- DCAF15 1
- DCDC2 2
- DHTKD1 2
- DNAH1 1
- DNAH6 1
- DNAL1 1
- DOLK 1
- DSG1 2
- DZIP1L 2
- EDN1 1
- EFNA4 1
- EIF2B3 1
- EMG1 1
- EMX2 2
- ENPP1 1
- ERCC6L2 1
- ESRP2 1
- FAM92A 1
- FGF20 1
- FIBP 1
- FKBP8 2
- FMN1 1
- FN1 2
- FOXH1 2
- FOXP4 1
- FRMD4A 1
- FZD5 1
- FZD6 1
- GALNT2 1
- GATA2 1
- GATA5 1
- GATAD2A 1
- GATAD2B 2
- GLDC 1
- GM2A 2
- GNPNAT1 1
- GOLGA2 2
- GON7 2
- GRHL2 2
- GRIA3 2
- GRIK2 2
- GRK2 1
- HACE1 1
- HAND1 1
- HAND2 1
- HDAC4 2
- HOXA11 1
- HOXD12 1
- HSD17B10 1
- HSF4 2
- IFT81 2
- INPP5K 1
- ISLR2 1
- ITGAV 1
- JAGN1 1
- KCNJ11 1
- KCTD1 1
- KIF21A 1
- KMT2E 2
- KPTN 1
- KRIT1 1
- LAMB2 1
- LINGO1 1
- LINS1 1
- LMOD1 1
- LOXL3 1
- LRP6 1
- LRPPRC 1
- LRRC32 1
- MAFB 1
- MBOAT7 1
- MCM7 1
- MED11 1
- MESP1 1
- MFN2 1
- MGAT2 1
- MIA3 1
- MIB1 1
- MIR17HG 2
- MMP15 1
- MMP9 2
- MRPS34 1
- MYLK 1
- MYLPF 2
- MYO9A 2
- NAGA 2
- NDUFA10 1
- NEK9 1
- NKX2-1 2
- NMNAT2 1
- NODAL 2
- NOG 1
- NPC2 1
- NPM1 1
- NR0B1 1
- NSUN2 2
- NT5C2 1
- NUAK2 2
- NUDCD2 1
- NUP85 1
- NUS1 2
- OXR1 2
- PAX8 1
- PDCD6IP 2
- PDHB 1
- PDHX 1
- PDIA6 2
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- PIGY 1
- PJA1 1
- PLCH1 2
- PLEKHA5 1
- PLEKHA7 1
- PLK1 1
- PNPLA6 1
- POLG 1
- PPP1R15B 1
- PPP2R5C 1
- PPP3CA 2
- PRDM15 1
- PRDM6 3
- PREPL 1
- PRIM1 2
- PRPS1 1
- PSAP 2
- PTEN 2
- PTHLH 1
- PURA 1
- PUS7 2
- QRICH1 1
- RASA2 1
- RFT1 1
- RFWD3 2
- RNASET2 1
- ROBO4 2
- RORA 1
- RPS23 1
- RPS28 1
- RPS29 1
- RRAS 1
- RREB1 1
- RSPRY1 1
- SCYL2 1
- SDHA 1
- SEMA3E 1
- SHROOM3 2
- SIK3 1
- SIX6 1
- SLC16A2 1
- SLC18A3 1
- SLC25A20 2
- SLC25A26 1
- SLC25A38 2
- SLC30A5 2
- SLC31A1 2
- SLC35A1 1
- SLC35C1 1
- SLC37A4 6
- SLC6A8 1
- SLIT2 1
- SLIT3 1
- SNAP25 2
- SNX14 1
- SOX3 3
- SPG11 1
- SRGAP1 1
- SRPK3 1
- STAT5B 2
- STX5 1
- TAF13 1
- TAPT1 2
- TBC1D23 1
- TBC1D7 2
- TBL1XR1 1
- TBR1 1
- TBX2 2
- TECPR2 1
- TERT 2
- THRB 2
- TKT 2
- TMEM126B 1
- TMEM70 1
- TNNI1 1
- TOPORS 1
- TRIP13 1
- TRMT10C 2
- TRPM7 2
- UNC50 2
- UNC80 3
- VEGFC 2
- VPS13B 2
- VPS50 2
- VPS51 1
- WDR11 3
- WDR26 3
- WDR81 1
- WDR91 1
- WNT4 2
- WNT9B 1
- ZBTB42 1
- ZDHHC9 2
- ZNF423 3
- ZNF668 1
- AAAS 1
- AASS 1
- ABCB11 1
- ABCB7 1
- ABCC8 1
- ABCD1 1
- ACADM 1
- ACADS 1
- ACAT1 1
- ACBD5 1
- ACVR2B 1
- ADA 2
- ADAR 1
- ADD3 1
- AFF2 1
- AGA 1
- AGL 1
- AGMO 1
- AGPAT2 1
- AGXT 1
- AIPL1 1
- AIRE 1
- AK2 1
- AKR1D1 1
- ALAD 1
- ALDH3A2 1
- ALDH4A1 1
- ALDH5A1 1
- ALDH7A1 1
- ALDOA 1
- ALDOB 1
- ALG2 2
- ALOX12B 2
- ALOXE3 2
- ALS2 1
- AMACR 1
- AMMECR1 1
- ANKRD26 1
- ANO5 1
- AP3B1 1
- APOPT1 1
- APTX 1
- ARG1 1
- ARPC4 1
- ARSA 1
- ASL 1
- ASS1 1
- ATM 1
- ATP13A2 1
- ATP6V1B1 1
- ATP8B1 1
- ATRIP 1
- AUH 1
- BANF1 1
- BCKDHA 1
- BCKDHB 1
- BGN 1
- BLOC1S6 1
- BMPR2 2
- BRWD1 2
- BTD 1
- C12orf65 1
- CA5A 1
- CA8 1
- CACNA1A 1
- CAD 1
- CALCRL 1
- CAMK2A 1
- CAMTA1 2
- CARS2 1
- CASR 1
- CAVIN1 1
- CBS 1
- CC2D1A 2
- CCDC115 2
- CCDC65 1
- CCDC78 1
- CCNO 1
- CD151 1
- CD96 1
- CDC6 1
- CDCA8 2
- CENPE 1
- CERS3 1
- CFAP43 1
- CFAP57 1
- CFAP74 1
- CFL2 1
- CHD2 1
- CHKA 2
- CHRDL1 1
- CNBP 1
- CNKSR2 1
- COL4A3BP 1
- COLQ 1
- COPB1 1
- COPB2 1
- COX6B1 1
- CPS1 2
- CSTA 1
- CSTB 1
- CTNS 2
- CUX2 1
- CYC1 1
- CYP19A1 1
- CYP2U1 1
- CYP4F22 1
- DARS2 1
- DBT 1
- DDB2 1
- DDC 1
- DDHD1 1
- DDHD2 1
- DDOST 1
- DHDDS 1
- DHFR 1
- DHH 1
- DHX30 1
- DLAT 1
- DLD 1
- DLG3 1
- DLG4 2
- DMP1 1
- DNAH2 1
- DNAH8 1
- DNAJB13 1
- DNAJC12 1
- DNM1 1
- DNM2 1
- DPM3 1
- DRC1 1
- DSTYK 2
- DUOX1 2
- DUOX2 2
- DUOXA1 2
- DUOXA2 2
- DUSP6 1
- EEF1A2 1
- EGR2 1
- ELMO2 1
- EMD 2
- ENO1 1
- EOMES 1
- ERMARD 1
- ETHE1 1
- ETV2 1
- EXPH5 2
- FAH 2
- FANCM 1
- FARS2 1
- FBXO11 2
- FDXR 1
- FERMT3 1
- FEZF1 1
- FGF12 1
- FGF17 1
- FLAD1 1
- FLRT3 1
- FMN2 1
- FOLR1 1
- FOXL2 1
- FOXP1 2
- FOXP2 1
- FOXR1 2
- FRRS1L 1
- FTSJ1 1
- FUCA1 1
- G6PD 1
- GABRA1 1
- GABRB3 1
- GABRG2 1
- GALC 1
- GALT 1
- GAMT 1
- GANAB 2
- GAS2L2 1
- GAS8 1
- GATM 1
- GBA2 1
- GDF2 1
- GDF3 2
- GDI1 1
- GFPT1 1
- GINS3 1
- GK 1
- GLA 1
- GLMN 2
- GLUD1 1
- GMPPA 2
- GNA11 2
- GNA14 1
- GNAI1 2
- GNAQ 1
- GNB5 1
- GNPTG 1
- GPAA1 1
- GPKOW 1
- GPT2 1
- GRIN2A 1
- GRIN2D 1
- GRM1 2
- GSPT2 1
- GTF2E2 2
- H19 1
- HADH 1
- HECW2 2
- HEXA 1
- HEXB 1
- HEY2 1
- HGSNAT 1
- HNRNPU 1
- HOXB1 1
- HOXB6 1
- HPD 2
- HPGD 1
- HR 1
- HYAL1 1
- HYDIN 1
- IDH1 1
- IGFBP7 1
- IGSF1 2
- IL1RAPL1 1
- INTS8 1
- IQCB1 1
- IQSEC2 1
- IRS4 2
- IRX4 1
- ITCH 1
- ITGA7 1
- ITPR1 1
- IYD 2
- KARS 1
- KBTBD13 1
- KCNC3 1
- KCNJ10 1
- KCNJ6 1
- KCNQ2 1
- KCNQ3 1
- KCNQ5 1
- KCNT1 1
- KCTD7 1
- KIF26B 1
- KISS1R 1
- KMT2B 1
- KMT5B 1
- KRT74 1
- L2HGDH 1
- LAMA3 2
- LAMA5 2
- LAMB3 2
- LAMP2 1
- LDB3 1
- LEMD3 1
- LHX3 2
- LHX4 2
- LIAS 1
- LIPT1 1
- LIPT2 1
- LMBRD1 1
- LRBA 2
- LTBP2 1
- LYST 1
- MAN1B1 1
- MAN2B1 1
- MANBA 1
- MAOA 1
- MAT1A 1
- MCF2 1
- MDH2 1
- MECP2 2
- MECR 1
- METTL23 1
- MFRP 1
- MMP13 2
- MORC2 1
- MPI 1
- MPV17 2
- MYBPC2 1
- MYL1 1
- MYO5A 1
- MYPN 2
- MYT1L 2
- NAGLU 2
- NAXE 1
- NDUFA1 1
- NDUFAF2 1
- NDUFS1 1
- NDUFS4 1
- NDUFS7 1
- NDUFS8 1
- NDUFV1 1
- NEK10 1
- NEXMIF 1
- NFU1 1
- NGLY1 2
- NHP2 1
- NKX6-2 1
- NR2F1 1
- NRXN2 1
- NT5C3A 1
- NTRK2 1
- NUF2 1
- NUP62 1
- PAICS 1
- PAX7 1
- PCYT1A 1
- PCYT2 1
- PDE10A 1
- PDSS1 2
- PDSS2 1
- PEPD 1
- PFKM 1
- PHC1 1
- PHF6 1
- PHIP 1
- PLCB1 2
- PLEKHM1 1
- PLP1 1
- POLG2 2
- POLR3B 1
- PPA2 1
- PPM1D 2
- PPT1 1
- PROP1 1
- PRRT2 1
- PRSS12 1
- PSMB8 1
- PTCHD1 1
- PTH 1
- PYCR2 1
- PYGM 1
- PYROXD1 1
- RAB11A 1
- RAB33B 1
- RAB39B 1
- RASGRP2 1
- RPH3A 1
- RRM2B 1
- RSPH1 1
- RSPH3 1
- RSPH4A 1
- RSPH9 1
- SACS 1
- SCN1B 1
- SCN7A 1
- SCN8A 1
- SCO1 1
- SCYL1 1
- SDHAF1 1
- SECISBP2 2
- SELENON 1
- SEPT9 2
- SERPINA11 1
- SERPINF1 1
- SET 1
- SETD1A 1
- SGCA 1
- SGCG 1
- SGMS2 1
- SGSH 1
- SHANK1 3
- SHANK2 1
- SHANK3 1
- SIK1 1
- SIM1 1
- SIX1 2
- SIX5 2
- SLC19A3 1
- SLC1A2 1
- SLC22A5 1
- SLC25A1 1
- SLC25A19 2
- SLC26A4 2
- SLC26A7 2
- SLC2A1 1
- SLC2A2 1
- SLC39A13 1
- SLC45A1 1
- SLC46A1 1
- SLC4A4 1
- SLC52A2 1
- SLC52A3 1
- SLC6A17 1
- SLC9A6 1
- SMS 1
- SNRPE 2
- SNX10 1
- SOX17 1
- SOX5 1
- SP110 1
- SP7 2
- SPARC 1
- SPEF2 1
- SPRED1 1
- SPTAN1 1
- SPTBN2 1
- SPTBN5 1
- SRP54 1
- ST3GAL3 2
- ST3GAL5 2
- STAG1 1
- STX1B 1
- STXBP1 2
- SURF1 1
- SYN1 1
- SYNCRIP 1
- SYNGAP1 2
- SYP 2
- TAC3 1
- TACO1 2
- TANGO2 2
- TBL1X 2
- TBXAS1 1
- TCF20 1
- TCN2 1
- TEK 1
- TGFB1 1
- TIMM8A 2
- TK2 1
- TMEM53 1
- TNXB 2
- TOGARAM1 1
- TRIM32 1
- TRIP12 2
- TRPS1 1
- TRPV3 1
- TSEN34 1
- TSPAN7 1
- TTC12 1
- TTC19 1
- TTC37 2
- TUBA8 2
- TUSC3 1
- UBA5 2
- UBE2A 2
- UBE3A 2
- UBTF 1
- UFC1 3
- UFM1 3
- UNC13A 1
- UPF3B 2
- UQCRB 2
- UQCRQ 2
- UROC1 1
- USP27X 1
- VDR 1
- WAC 2
- WDR45 1
- WNT3 1
- WRAP53 2
- XPA 2
- XPC 1
- YWHAG 1
- ZFYVE26 2
- ZMYND11 1
- ZNF3 1
- ZNF711 2
- ODC1 1
Fetal anomalies
Gene: SOX2 Green List (high evidence)EnsemblGeneIds (GRCh38): ENSG00000181449
EnsemblGeneIds (GRCh37): ENSG00000181449
OMIM: 184429, Gene2Phenotype
SOX2 is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Green List (high evidence)
Variants in SOX2 account for approximately 40% of anophthalmia/microphthalmia. SOX2 mutation-positive individuals without major eye findings, but with a range of other developmental disorders including autism, mild to moderate intellectual disability with or without structural brain changes, oesophageal atresia, urogenital anomalies, and endocrinopathy have been reported.Created: 28 Dec 2020, 7:17 a.m. | Last Modified: 28 Dec 2020, 7:17 a.m.
Panel Version: 0.3353
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microphthalmia, syndromic 3, MIM# 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900
Publications
Last Modified: 28 Dec 2020, 7:17 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.3353
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Genetic Health Queensland
- Phenotypes
-
- Microphthalmia, syndromic 3, MIM# 206900
- Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900
- OMIM
- 184429
- Clinvar variants
- Variants in SOX2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Holoprosencephaly and septo-optic dysplasia
- Anophthalmia_Microphthalmia_Coloboma
- Fetal anomalies
- Clefting disorders
- Mendeliome
- Eye Anterior Segment Abnormalities
- Pituitary hormone deficiency
- Intellectual disability syndromic and non-syndromic
- Callosome
- Differences of Sex Development
- Growth failure
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: sox2 has been classified as Green List (High Evidence).
Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)Phenotypes for gene: SOX2 were changed from AEG SYNDROME; MICROPHTHALMIA SYNDROMIC TYPE 3 to Microphthalmia, syndromic 3, MIM# 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900
Set publications
Seb Lunke (Victorian Clinical Genetics Services)Publications for gene: SOX2 were set to
Set mode of inheritance
Seb Lunke (Victorian Clinical Genetics Services)Mode of inheritance for gene: SOX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SOX2 was added gene: SOX2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOX2 were set to AEG SYNDROME; MICROPHTHALMIA SYNDROMIC TYPE 3