Genes in panel
- AAAS 1
- ABCC6 1
- ABCC8 2
- ABCD1 1
- ABCD4 2
- ABCG5 1
- ACAD9 2
- ACADM 2
- ACADVL 2
- ACAT1 2
- ACTA2 2
- ACVRL1 1
- ADA 1
- ADA2 1
- ADAMTS13 1
- ADGRV1 1
- AGL 2
- AGRN 1
- AGXT 1
- AHCY 3
- AICDA 1
- AIRE 1
- AK2 1
- AKR1D1 1
- ALDH4A1 2
- ALDH7A1 1
- ALDOB 1
- ALPL 1
- AMACR 1
- AMN 1
- AP3B1 1
- AQP2 1
- ARG1 2
- ARPC1B 1
- ARSA 2
- ARSB 2
- ASL 2
- ASS1 2
- ATP6V0A4 1
- ATP6V1B1 1
- ATP7A 1
- ATP7B 2
- AVP 1
- AVPR2 1
- BCHE 2
- BCKDHA 2
- BCKDHB 2
- BCKDK 2
- BLNK 1
- BMP1 1
- BRCA1 1
- BRCA2 1
- BRIP1 1
- BSCL2 2
- BSND 1
- BTD 2
- BTK 2
- C17orf62 1
- C2 1
- C3 1
- C5 1
- C6 1
- C7 1
- C8B 1
- C9 1
- CA12 1
- CA2 1
- CA5A 2
- CABP2 1
- CACNA1S 1
- CAD 1
- CALM3 1
- CARD11 1
- CASR 1
- CAV1 1
- CAVIN1 2
- CBS 2
- CD19 1
- CD247 1
- CD27 1
- CD3D 1
- CD3E 1
- CD3G 1
- CD40 1
- CD40LG 1
- CD55 1
- CD70 1
- CD79A 1
- CD79B 1
- CDC14A 1
- CDCA7 1
- CDCA8 1
- CDH23 1
- CDKN1C 1
- CEBPE 1
- CFD 1
- CFH 1
- CFI 1
- CFP 1
- CFTR 2
- CHAT 2
- CHRNA1 2
- CHRNB1 1
- CHRND 2
- CHRNE 2
- CIB2 1
- CIITA 1
- CLCN7 1
- CLDN14 1
- CLPP 1
- COCH 1
- COL11A1 1
- COL11A2 1
- COL13A1 1
- COL1A1 1
- COL1A2 1
- COL2A1 1
- COL4A3 1
- COL4A4 1
- COL4A5 1
- COL9A1 1
- COL9A2 2
- COL9A3 1
- COLQ 2
- COQ2 1
- COQ4 2
- COQ6 1
- COQ8A 2
- CORO1A 1
- CPS1 2
- CPT1A 2
- CPT2 2
- CRTAP 1
- CSF3R 1
- CTNS 2
- CTPS1 1
- CUBN 2
- CUL3 1
- CXCR4 1
- CYB561 1
- CYBA 1
- CYBB 1
- CYP11A1 2
- CYP11B1 2
- CYP11B2 2
- CYP17A1 2
- CYP21A2 2
- CYP27A1 2
- CYP27B1 2
- CYP2R1 1
- CYP7B1 1
- DBT 2
- DCLRE1C 1
- DDC 2
- DFNB59 1
- DGAT1 2
- DHCR7 2
- DHFR 1
- DICER1 1
- DLAT 1
- DMP1 1
- DNAJC12 1
- DNAJC21 1
- DNASE2 1
- DNMT3B 1
- DOCK2 1
- DOCK8 1
- DOK7 1
- DPAGT1 2
- DUOX2 1
- DUOXA2 1
- ECHS1 1
- EDN3 1
- EDNRB 1
- EFL1 1
- EIF2AK3 1
- ELANE 1
- ENG 1
- ENPP1 1
- EPS8 1
- ERCC4 1
- ESPN 1
- ESRRB 1
- ETFA 2
- ETFB 2
- ETFDH 2
- ETHE1 2
- F10 1
- F13A1 1
- F13B 1
- F7 1
- F9 1
- FAH 2
- FAM111A 1
- FANCA 1
- FANCB 1
- FANCC 1
- FANCD2 1
- FANCG 1
- FANCI 1
- FBN1 1
- FBP1 2
- FCHO1 1
- FECH 1
- FERMT3 1
- FGA 1
- FGB 1
- FGF23 1
- FGF3 1
- FGFR3 1
- FGG 1
- FH 2
- FKBP10 1
- FLAD1 2
- FOLR1 1
- FOXA2 1
- FOXE1 1
- FOXN1 1
- FOXP3 1
- FUCA1 2
- G6PC 3
- G6PC3 1
- G6PD 1
- GAA 1
- GALC 1
- GALE 2
- GALK1 2
- GALM 1
- GALNS 1
- GALNT3 1
- GALT 2
- GAMT 1
- GATA2 1
- GATA3 2
- GATA4 3
- GATM 2
- GBA 1
- GCDH 2
- GCH1 3
- GCK 2
- GCM2 1
- GFI1 1
- GGCX 2
- GH1 1
- GHR 1
- GHRHR 1
- GIF 2
- GIPC3 1
- GJB2 1
- GLA 2
- GLIS3 2
- GLRA1 1
- GLUD1 1
- GNAS 1
- GOT2 2
- GPIHBP1 1
- GREB1L 1
- GRHPR 2
- GRXCR1 1
- GUSB 2
- GYS2 2
- HADH 2
- HADHA 3
- HADHB 2
- HAX1 1
- HBB 1
- HELLS 1
- HESX1 1
- HGF 1
- HIBCH 1
- HK1 1
- HLCS 2
- HMGCL 2
- HOGA1 1
- HSD11B2 1
- HSD3B2 2
- HSD3B7 1
- ICOS 1
- IDS 2
- IDUA 2
- IFITM5 1
- IGF1 1
- IGHM 1
- IGLL1 1
- IGSF1 1
- IKBKB 1
- IKZF1 1
- IL10 1
- IL10RA 1
- IL10RB 1
- IL1RN 1
- IL21R 1
- IL2RA 1
- IL2RB 1
- IL2RG 1
- IL36RN 1
- IL7R 1
- ILDR1 1
- INS 1
- IRAK4 1
- IRF8 1
- IRS4 1
- ITGA2B 1
- ITGB2 1
- ITGB3 1
- ITK 1
- IVD 2
- IYD 1
- JAGN1 1
- JAK3 1
- KCNH2 1
- KCNJ1 1
- KCNJ11 1
- KCNJ2 1
- KCNQ1 2
- KDELR2 1
- KLHL3 1
- LAMA2 2
- LAT 1
- LDLR 2
- LEP 1
- LEPR 2
- LHFPL5 2
- LHX3 2
- LHX4 2
- LIG1 1
- LIG4 3
- LIPA 2
- LMBRD1 3
- LOXHD1 2
- LPL 1
- LRBA 1
- LRP5 2
- LRTOMT 1
- LYST 1
- MAFB 2
- MAGT1 1
- MALT1 1
- MAN2B1 2
- MARVELD2 1
- MC2R 2
- MCEE 1
- MEFV 2
- MESD 1
- MITF 2
- MLH1 1
- MLYCD 3
- MMAA 2
- MMAB 2
- MMACHC 2
- MMADHC 2
- MNX1 1
- MOCS1 2
- MPI 3
- MPL 2
- MRAP 2
- MSH2 1
- MSH6 1
- MTHFD1 1
- MTR 2
- MT-RNR1 1
- MTRR 2
- MTTP 2
- MUSK 2
- MUT 2
- MVK 2
- MYD88 1
- MYH7 2
- MYO15A 2
- MYO3A 2
- MYO6 2
- MYO7A 2
- MYSM1 2
- NAGLU 2
- NAGS 2
- NCF2 2
- NCF4 1
- NEUROG3 2
- NFKBIA 1
- NHEJ1 2
- NIPAL4 2
- NKX2-1 2
- NKX2-5 1
- NNT 2
- NPC1 3
- NPC2 3
- NR0B1 2
- NR3C2 2
- NR5A1 2
- OAS1 1
- OAT 1
- ORAI1 1
- OTC 2
- OTOA 1
- OTOF 1
- OTOG 1
- OTOGL 2
- OTULIN 1
- OTX2 1
- OXCT1 2
- P3H1 1
- PAH 2
- PALB2 2
- PAX3 1
- PAX8 1
- PC 2
- PCBD1 2
- PCCA 2
- PCCB 2
- PCDH15 1
- PCSK9 1
- PDHA1 2
- PDHB 1
- PDHX 2
- PDP1 1
- PDX1 1
- PDZD7 1
- PGM1 1
- PGM3 1
- PHEX 1
- PHGDH 1
- PHKA2 1
- PHKB 1
- PHKG2 1
- PIK3CD 1
- PIK3R1 1
- PKLR 1
- PLG 1
- PLPBP 1
- PLS3 1
- PNP 1
- PNPO 1
- POLE 1
- POMC 1
- POR 1
- POU1F1 1
- POU3F4 1
- PPOX 1
- PRDX1 1
- PRF1 1
- PRKAR1A 1
- PRKDC 1
- PROP1 1
- PSTPIP1 1
- PTCH1 1
- PTF1A 1
- PTPRC 1
- PTPRQ 1
- PTS 2
- PYGL 2
- QDPR 2
- RAB27A 1
- RAC2 1
- RAG1 1
- RAG2 1
- RAPSN 1
- RASGRP1 1
- RB1 1
- RDX 1
- REST 1
- RET 1
- RFX5 1
- RFXANK 1
- RFXAP 1
- RMRP 1
- RNPC3 1
- RPE65 1
- RPL11 1
- RPL15 1
- RPL35A 1
- RPL5 1
- RPS10 1
- RPS17 1
- RPS19 1
- RPS24 1
- RPS26 1
- RPS7 1
- RUNX1 1
- RYR1 1
- RYR2 1
- S1PR2 1
- SAMD9 1
- SAMD9L 1
- SAR1B 1
- SBDS 1
- SCNN1A 1
- SCNN1B 1
- SCNN1G 1
- SERPINF1 1
- SERPINH1 1
- SGPL1 2
- SH2D1A 1
- SI 1
- SLC12A1 1
- SLC18A2 1
- SLC18A3 1
- SLC19A2 1
- SLC19A3 1
- SLC22A5 3
- SLC25A13 3
- SLC25A15 2
- SLC25A19 3
- SLC25A20 3
- SLC25A38 1
- SLC26A3 1
- SLC26A4 2
- SLC26A7 1
- SLC2A1 2
- SLC30A10 1
- SLC34A3 1
- SLC35A2 1
- SLC37A4 1
- SLC39A4 1
- SLC39A7 2
- SLC39A8 1
- SLC46A1 1
- SLC4A1 1
- SLC52A2 1
- SLC52A3 1
- SLC5A1 1
- SLC5A5 2
- SLC5A6 1
- SLC5A7 1
- SLC7A7 1
- SLITRK6 1
- SLX4 1
- SMAD2 1
- SMAD3 1
- SMARCD2 2
- SMN1 2
- SMPD1 1
- SNX10 1
- SP110 1
- SPR 2
- SRP54 1
- STAR 1
- STAT1 2
- STAT3 1
- STIM1 2
- STK4 2
- STX11 1
- STX16 1
- STXBP2 1
- SYT2 1
- TANGO2 1
- TAT 2
- TBL1X 1
- TBX19 1
- TCF3 1
- TCIRG1 1
- TCN2 2
- TECTA 1
- TF 1
- TG 2
- TGFB2 1
- TGFB3 1
- TGFBR1 1
- TGFBR2 1
- TH 1
- THRA 2
- TK2 2
- TMC1 1
- TMEM38B 1
- TMIE 1
- TMPRSS3 1
- TNFRSF11A 1
- TP53 1
- TPK1 1
- TPO 1
- TPP1 2
- TPRN 1
- TRHR 1
- TRIM28 1
- TRIOBP 1
- TRMU 2
- TRPM6 1
- TSHB 1
- TSHR 2
- TTPA 1
- TUBB1 1
- UBE2T 2
- UGT1A1 1
- UMPS 1
- UNC13D 1
- UROS 2
- USH1C 1
- USH1G 1
- USH2A 1
- VAMP1 1
- VDR 1
- VHL 2
- VKORC1 2
- VPS45 1
- WAS 1
- WDR1 1
- WDR72 2
- WHRN 2
- WIPF1 1
- WNK1 1
- WNK4 1
- WT1 1
- XIAP 1
- XPA 1
- XPC 1
- ZAP70 1
- ADAR 1
- AGPAT2 1
- AMT 1
- AP1B1 2
- AP3D1 1
- CACNA1C 0
- CALM1 1
- CALM2 1
- CASQ2 1
- CLN3 2
- CLN5 2
- CLN6 2
- COL3A1 1
- COQ7 2
- CP 1
- CRYAB 0
- DES 0
- DMD 1
- DSC2 1
- DSG2 1
- DSP 1
- ERCC6L2 1
- F8 1
- GFAP 2
- GJA5 0
- GLDC 2
- GNE 1
- GPD1L 0
- HBA1 1
- HBA2 1
- HGD 2
- HMGCS2 2
- HNF1A 1
- HNF4A 1
- IARS 1
- IFNGR1 1
- IFNGR2 1
- IKBKG 1
- JUP 1
- KCNE1 0
- KCNE2 0
- KRIT1 0
- LAMP2 3
- LMNA 0
- LOX 1
- MCFD2 2
- MEN1 2
- MYH11 1
- MYL2 0
- MYL3 0
- MYLK 0
- NAXD 1
- NCF1 2
- NLRP3 1
- PKD1 1
- PKD2 1
- PKP2 1
- PMS2 1
- PRKG1 1
- PSPH 2
- RBM20 0
- RNASEH2A 1
- RNASEH2B 1
- RNASEH2C 1
- SAMHD1 2
- SCN5A 1
- SDHAF2 0
- SDHB 0
- SDHC 0
- SGSH 2
- SLC16A1 2
- SLC16A2 1
- SLC25A1 1
- SLC35C1 1
- SLC39A14 1
- SLC6A5 1
- SLC6A8 2
- SLC9A3 2
- SMARCAL1 1
- SNTA1 0
- SOX3 2
- SP7 1
- SPTLC1 1
- STK11 2
- STRC 2
- SUOX 1
- TECRL 1
- TERC 0
- TERT 0
- TINF2 0
- TMEM165 2
- TNFRSF11B 1
- TNFSF11 2
- TNNC1 0
- TNNI3 0
- TNNT2 0
- TOP2B 2
- TPM1 0
- TRDN 1
- TREX1 2
- TRNT1 2
- TRPM4 1
- TTN 0
- UNG 2
- USP18 2
- VCL 0
- VWF 0
- ZBTB24 2
- AARS 1
- AARS2 0
- ABAT 0
- ABCA12 1
- ABCA3 1
- ABCA4 1
- ABCB11 1
- ABCB4 1
- ABCB7 0
- ABCC2 1
- ABCC9 0
- ABHD12 1
- ACAD8 1
- ACADL 0
- ACADS 1
- ACADSB 1
- ACBD5 0
- ACE 1
- ACO2 0
- ACOX1 1
- ACSF3 0
- ACTA1 0
- ACTB 0
- ACTC1 0
- ACTG1 1
- ACTG2 1
- ACTN1 1
- ACTN2 0
- ACTN4 1
- ACVR1 1
- ACVR2B 0
- ADAM17 0
- ADAMTS2 0
- ADAMTSL2 1
- ADGRG1 1
- ADK 1
- AGA 1
- AGPS 0
- AGT 0
- AGTR1 0
- AHI1 1
- AHSP 0
- AIFM1 1
- AIP 1
- AK1 0
- AKAP9 0
- AKT2 0
- AKT3 0
- ALAS2 1
- ALB 1
- ALDH18A1 1
- ALDH1A2 0
- ALDH3A2 1
- ALDH5A1 1
- ALDOA 0
- ALG1 1
- ALG11 0
- ALG12 1
- ALG14 1
- ALG2 0
- ALG3 1
- ALG6 1
- ALG8 1
- ALG9 1
- ALK 1
- ALMS1 1
- ALOX12B 1
- ALOXE3 1
- ALS2 1
- ALX4 1
- AMELX 1
- AMPD1 0
- ANK1 1
- ANK2 1
- ANKH 1
- ANKRD1 0
- ANKRD26 1
- ANO10 1
- ANO5 0
- ANTXR2 1
- AP1S3 0
- AP4B1 1
- AP4E1 1
- AP4M1 1
- APC 1
- APOA5 1
- APOB 1
- APOE 0
- APP 0
- APRT 1
- APTX 1
- AR 1
- ARFGEF2 1
- ARHGAP31 0
- ARHGEF9 0
- ARID1A 0
- ARID1B 1
- ARL13B 0
- ARMC4 1
- ARSE 0
- ARX 1
- ASCL1 0
- ASNS 0
- ASPA 1
- ATIC 0
- ATM 1
- ATN1 0
- ATP1A2 1
- ATP1A3 0
- ATP2A1 1
- ATP2B2 1
- ATP6AP2 0
- ATP6V0A2 1
- ATP8B1 1
- ATR 0
- ATRX 1
- AUH 2
- AXL 0
- B3GAT3 0
- B3GLCT 1
- B4GALT1 0
- B9D2 0
- BAAT 1
- BAG3 0
- BANF1 0
- BARD1 0
- BBS1 1
- BBS10 1
- BBS12 1
- BBS2 1
- BBS4 1
- BBS5 1
- BBS7 1
- BBS9 1
- BCL9 0
- BCS1L 2
- BDNF 0
- BICD2 1
- BIN1 1
- BLM 1
- BLOC1S3 0
- BLOC1S6 0
- BMPR1A 1
- BMPR2 1
- BNC2 0
- BPGM 0
- BRAF 1
- BVES 0
- C8A 1
- CACNA1A 1
- CACNA1D 0
- CACNA1F 1
- CACNA2D1 0
- CACNB2 0
- CAPN3 1
- CARS2 0
- CASK 1
- CASP10 0
- CAV3 1
- CAVIN4 0
- CBL 1
- CC2D2A 1
- CCDC103 0
- CCDC39 1
- CCDC40 1
- CCDC50 0
- CCDC78 0
- CCDC88C 0
- CD164 1
- CD2AP 0
- CD36 0
- CD46 0
- CD81 1
- CD96 0
- CDAN1 1
- CDH1 0
- CDK5RAP2 1
- CDKL5 1
- CDKN2A 1
- CDON 0
- CDSN 1
- CDT1 1
- CEACAM16 0
- CENPJ 0
- CEP152 1
- CEP250 1
- CEP290 1
- CEP41 0
- CEP78 1
- CEP83 1
- CFB 0
- CFC1 1
- CFHR1 0
- CFHR3 0
- CFHR4 0
- CFHR5 0
- CFL2 1
- CHD2 1
- CHD7 1
- CHEK2 0
- CHKB 1
- CHM 1
- CHRM2 0
- CHRNA2 0
- CHRNG 2
- CHST3 0
- CHSY1 0
- CISD2 0
- CITED2 0
- CLCN1 0
- CLCN5 1
- CLDN1 0
- CLDN19 1
- CLDN9 1
- CLMP 0
- CLN8 3
- CLRN1 1
- CNGB3 1
- CNTNAP2 0
- COG4 0
- COG5 1
- COG7 0
- COL17A1 1
- COL4A6 2
- COL5A1 1
- COL5A2 1
- COL6A1 1
- COL6A2 1
- COL6A3 1
- COL7A1 1
- COQ8B 2
- COQ9 2
- COX4I2 0
- CPOX 0
- CPZ 0
- CR2 1
- CREBBP 1
- CRELD1 0
- CRLF1 1
- CRYM 1
- CSF1R 0
- CSF2RA 1
- CSF2RB 0
- CSRP3 0
- CSTA 0
- CSTB 1
- CTC1 1
- CTDP1 0
- CTF1 0
- CTR9 1
- CTSD 2
- CTSK 1
- CUL7 1
- CYCS 0
- CYP4F22 1
- CYP7A1 0
- D2HGDH 2
- DAG1 0
- DAPK3 0
- DBH 0
- DCTN1 0
- DCX 1
- DDB2 1
- DDHD1 0
- DDOST 0
- DDR2 1
- DECR1 0
- DFNA5 1
- DGKE 0
- DGUOK 2
- DHCR24 0
- DIABLO 0
- DIAPH1 1
- DKC1 1
- DLC1 0
- DLD 2
- DLL3 1
- DMPK 1
- DMXL2 1
- DNAAF1 1
- DNAAF2 0
- DNAAF3 0
- DNAAF5 0
- DNAH11 1
- DNAH5 1
- DNAI1 1
- DNAI2 0
- DNAJB6 1
- DNAJC19 0
- DNAJC5 0
- DNAL1 0
- DNM2 1
- DOLK 2
- DPM1 0
- DPP6 0
- DPYD 0
- DTHD1 0
- DTNA 0
- DTNBP1 0
- DYSF 1
- ECE1 0
- EDA 1
- EDAR 1
- EDARADD 1
- EFEMP2 0
- EFHC1 0
- EFTUD2 1
- EGR2 1
- EIF2B1 0
- ELN 1
- ELP1 1
- EMD 1
- EPB42 0
- EPCAM 0
- EPHX1 0
- EPM2A 1
- EPS8L2 1
- ERBB3 0
- ERCC1 0
- ERCC2 1
- ERCC3 0
- ERCC5 1
- ERCC6 1
- ERCC8 1
- ESCO2 1
- EVC 1
- EVC2 1
- EXT1 1
- EXT2 1
- EYA1 1
- EYA4 1
- EZH2 1
- F11 1
- F2 1
- F5 1
- FAAH2 0
- FAM111B 0
- FAM126A 1
- FAM161A 1
- FAM20C 1
- FAM58A 1
- FANCE 0
- FANCF 0
- FANCL 0
- FANCM 0
- FAS 1
- FBLN5 0
- FBN2 1
- FGD1 1
- FGD4 1
- FGFR1 1
- FGFR2 1
- FHL1 0
- FHL2 0
- FKBPL 0
- FKRP 1
- FKTN 1
- FLCN 1
- FLG 0
- FLNA 1
- FLNC 0
- FMO3 0
- FOXC1 1
- FOXC2 1
- FOXF1 1
- FOXF2 0
- FOXH1 0
- FOXI1 1
- FRAS1 1
- FREM1 0
- FREM2 0
- FSCN2 0
- FTCD 0
- FTL 1
- FXN 1
- GABRA1 0
- GABRG2 1
- GAN 2
- GATA1 0
- GATA5 0
- GATA6 0
- GATAD1 0
- GBE1 0
- GCLC 0
- GCSH 0
- GDAP1 1
- GDF1 0
- GDNF 0
- GFER 0
- GFM1 2
- GFPT1 2
- GJA1 1
- GJB1 1
- GJC2 1
- GLB1 2
- GLE1 0
- GLI2 0
- GLI3 1
- GLRB 0
- GLUL 0
- GMPPA 0
- GNPTAB 1
- GNPTG 2
- GNS 1
- GPC3 1
- GPC4 0
- GPC6 0
- GPHN 0
- GPR143 1
- GPR161 1
- GPSM2 1
- GPX1 0
- GRHL2 1
- GRIN2A 0
- GSS 1
- GTF2H5 0
- GUCY2C 0
- GYG1 0
- H19 0
- HAMP 0
- HARS 0
- HARS2 1
- HAS2 0
- HCCS 0
- HCFC1 1
- HCN4 0
- HDAC8 1
- HERC2 0
- HEXA 1
- HEXB 1
- HFE 0
- HFE2 0
- HGSNAT 1
- HINT1 1
- HMBS 0
- HNF1B 0
- HOMER2 1
- HOMEZ 0
- HOXA1 0
- HPD 2
- HPRT1 2
- HPS1 1
- HPS3 1
- HPS4 1
- HPS5 1
- HPS6 0
- HRAS 1
- HSD17B10 2
- HSD17B3 1
- HSD17B4 1
- HSPB8 1
- HSPG2 1
- HTRA1 1
- HYDIN 0
- HYLS1 0
- IFT122 0
- IFT43 0
- IFT80 0
- IGBP1 0
- IGHMBP2 1
- ILK 0
- INSR 1
- INVS 1
- IQCB1 1
- IRF6 1
- IRS1 0
- ISCU 0
- ISL1 0
- ISPD 1
- ITGA3 1
- ITGA6 0
- ITGA7 0
- ITGB4 1
- JAG1 1
- JPH2 0
- KANSL1 1
- KARS 2
- KAT6B 1
- KBTBD13 1
- KCNA1 1
- KCNA5 1
- KCND3 0
- KCNE3 0
- KCNE5 0
- KCNJ18 0
- KCNJ5 0
- KCNJ8 0
- KCNQ1OT1 0
- KCNQ2 0
- KCNQ3 0
- KCNQ4 1
- KCNT1 1
- KCTD7 1
- KDM5B 0
- KDM6A 1
- KIF1B 0
- KIF1BP 0
- KIF21A 1
- KIF22 0
- KIT 1
- KLF1 1
- KLHL40 1
- KLHL41 1
- KMT2D 1
- KPTN 0
- KRAS 1
- KRT14 1
- KRT16 1
- KRT17 1
- KRT18 0
- KRT5 1
- KRT6A 1
- KRT6B 0
- KRT8 0
- L1CAM 2
- LAMA3 2
- LAMA4 0
- LAMB2 2
- LAMB3 2
- LAMC2 2
- LAMTOR2 1
- LARGE1 2
- LARS 0
- LARS2 2
- LBR 0
- LDB3 0
- LGI1 0
- LHB 0
- LIAS 1
- LIFR 2
- LITAF 1
- LMNB2 0
- LMOD3 2
- LMX1A 1
- LMX1B 2
- LPIN2 0
- LPP 0
- LRP2 2
- LRP4 2
- LRPPRC 2
- LRRC6 2
- LRRK2 0
- LRSAM1 1
- LTBP4 2
- LUM 0
- LYZ 0
- MAD2L2 1
- MAGI2 2
- MAP2K1 1
- MAP2K2 1
- MAPK10 0
- MAPT 0
- MAT1A 1
- MATN4 0
- MBTPS2 1
- MCCC1 2
- MCCC2 2
- MCOLN1 1
- MCPH1 2
- MECP2 2
- MED12 2
- MED13L 0
- MED20 0
- MED25 2
- MEGF10 2
- MESP2 0
- MFN2 2
- MFSD8 2
- MGAT2 2
- MGP 2
- MIB1 0
- MIR96 0
- MKKS 2
- MKS1 2
- MLC1 2
- MLPH 0
- MOCS2 2
- MOGS 0
- MPDU1 2
- MPV17 2
- MPZ 2
- MPZL2 1
- MRPS16 0
- MRPS22 0
- MSRB3 0
- MSX2 2
- MTHFR 1
- MTHFS 1
- MTM1 2
- MT-ND1 0
- MT-ND4 0
- MT-ND6 0
- MTO1 0
- MUC5B 0
- MUTYH 1
- MYBPC1 2
- MYBPC3 0
- MYCN 2
- MYH14 2
- MYH2 2
- MYH3 2
- MYH6 0
- MYH9 2
- MYLK2 0
- MYO1C 0
- MYO1E 0
- MYO1F 0
- MYO5A 0
- MYO9A 2
- MYOM1 0
- MYOT 0
- MYOZ2 0
- MYPN 0
- NAA10 0
- NAA15 0
- NAGA 2
- NAXE 1
- NBN 2
- NDP 2
- NEB 2
- NEBL 0
- NECTIN1 0
- NEDD4L 0
- NEFL 2
- NEK1 2
- NEK8 2
- NEU1 2
- NEXN 0
- NF1 2
- NF2 2
- NFATC1 0
- NGLY1 2
- NHLRC1 2
- NHP2 0
- NIN 0
- NIPBL 2
- NKX3-2 0
- NLGN3 0
- NLGN4X 1
- NLRP7 0
- NME8 0
- NOG 2
- NOP10 0
- NOTCH1 0
- NOTCH2 2
- NOTCH3 2
- NPHP1 2
- NPHP3 2
- NPHP4 2
- NPHS1 2
- NPPA 0
- NR1H4 0
- NRG1 0
- NRXN1 0
- NSD1 2
- NSDHL 0
- NTRK1 2
- NUB1 0
- NUP155 0
- NUP62 0
- OBSL1 2
- OCA2 2
- OCRL 2
- OFD1 2
- OPA1 2
- OPA3 0
- ORC1 2
- ORC4 0
- ORC6 0
- OSMR 2
- OSTM1 1
- OTUD4 0
- P2RX2 0
- P2RY12 1
- PABPN1 0
- PAK3 1
- PANK2 1
- PAX5 1
- PAX6 2
- PCNT 1
- PDE11A 0
- PDE4D 1
- PDLIM3 0
- PDSS1 0
- PDSS2 0
- PEX1 1
- PEX10 1
- PEX11B 0
- PEX12 1
- PEX13 1
- PEX14 0
- PEX16 0
- PEX19 0
- PEX2 1
- PEX26 1
- PEX3 1
- PEX5 1
- PEX6 1
- PEX7 1
- PFKM 1
- PHF6 1
- PHKA1 0
- PHOX2A 0
- PHOX2B 1
- PHYH 1
- PIEZO2 1
- PIGA 2
- PIK3CA 1
- PINK1 1
- PKHD1 1
- PLA2G6 1
- PLCE1 1
- PLEC 1
- PLN 0
- PLOD1 1
- PLOD2 1
- PLP1 1
- PMM2 1
- PMP22 1
- PNKD 1
- PNKP 1
- PNPLA1 0
- PODXL 0
- POLG 2
- POLH 1
- POMGNT1 1
- POMT1 1
- POMT2 1
- PORCN 1
- POU4F3 1
- PPIB 1
- PPT1 1
- PQBP1 1
- PRDM16 0
- PREPL 0
- PRICKLE1 0
- PRKAG2 0
- PRKCSH 0
- PROC 1
- PRODH 0
- PROKR2 1
- PROS1 1
- PRPS1 0
- PRRX1 0
- PRX 1
- PSAP 1
- PSAT1 0
- PSEN1 0
- PSEN2 0
- PTEN 1
- PTH1R 1
- PTPN11 1
- PYGM 1
- RAB10 0
- RAB23 1
- RAB3GAP1 1
- RAB3GAP2 1
- RAB7A 1
- RAD51B 0
- RAF1 1
- RAI1 1
- RANGRF 0
- RASA1 1
- RBM8A 1
- RECQL4 1
- RELN 0
- REN 1
- RETREG1 1
- RFWD3 1
- RFX6 0
- RHAG 0
- ROR2 1
- RPGR 1
- RPGRIP1L 1
- RPL18 1
- RPL26 1
- RPL27 1
- RPL35 1
- RPS15 1
- RPS15A 1
- RPS27 1
- RPS28 1
- RPS29 1
- RPS6KA3 1
- RRM2B 1
- RS1 1
- RSPH4A 1
- RSPH9 1
- RUNX2 1
- SACS 1
- SALL1 1
- SARS 1
- SC5D 0
- SCARB2 1
- SCN11A 1
- SCN1A 2
- SCN1B 0
- SCN2A 2
- SCN2B 0
- SCN3A 2
- SCN3B 0
- SCN4A 0
- SCN4B 0
- SCN8A 2
- SCO1 0
- SCO2 1
- SCP2 0
- SDHD 2
- SEC63 0
- SELENON 1
- SEMA3A 0
- SERPINA1 2
- SERPINB6 0
- SERPINC1 0
- SERPIND1 0
- SERPING1 1
- SETBP1 1
- SETX 1
- SFTPA2 0
- SFTPB 1
- SFTPC 2
- SGCA 1
- SGCB 1
- SGCD 1
- SGCG 1
- SH3BP2 0
- SH3TC2 1
- SHANK3 1
- SHH 1
- SHOC2 0
- SIL1 1
- SIX1 1
- SIX2 0
- SIX3 1
- SIX5 0
- SKI 1
- SLC11A2 0
- SLC12A3 1
- SLC12A5 0
- SLC12A6 1
- SLC13A5 2
- SLC16A12 0
- SLC17A5 1
- SLC1A3 1
- SLC25A12 0
- SLC25A22 0
- SLC25A4 1
- SLC26A2 1
- SLC27A4 1
- SLC27A5 0
- SLC2A10 1
- SLC33A1 0
- SLC34A2 1
- SLC35A1 0
- SLC35D1 1
- SLC3A1 2
- SLC41A1 0
- SLC45A2 1
- SLC4A10 0
- SLC4A11 1
- SLC4A4 1
- SLC5A2 1
- SLC6A19 1
- SLC6A2 0
- SLC7A9 2
- SLC9A3R1 0
- SLC9A6 1
- SLCO1B1 0
- SLCO1B3 0
- SLCO2A1 1
- SMAD1 0
- SMAD4 1
- SMAD6 0
- SMAD9 0
- SMC1A 1
- SMO 0
- SMPX 1
- SNAP25 1
- SNAP29 0
- SOD1 0
- SORD 1
- SOX10 1
- SOX18 0
- SOX9 1
- SPARC 1
- SPEG 1
- SPINK5 1
- SPRED1 1
- SPTA1 1
- SPTB 1
- SPTLC2 0
- SRCAP 1
- ST14 0
- ST3GAL5 0
- STAC3 1
- STRA6 1
- STS 1
- STXBP1 1
- SUCLA2 1
- SUCLG1 1
- SUFU 1
- SURF1 1
- SYNE4 0
- SYT14 0
- TAB2 0
- TARDBP 0
- TAZ 1
- TBC1D24 1
- TBCE 0
- TBX1 2
- TBX20 0
- TBX5 1
- TCAP 0
- TCOF1 1
- TCTN1 0
- TCTN3 0
- TFAP2A 2
- TFAP2B 2
- TFG 1
- TFR2 0
- TGFB1 0
- TGIF1 0
- TGM1 1
- TGM5 1
- THAP11 2
- THBD 0
- THBS1 0
- THRB 1
- TIMM8A 1
- TJP2 0
- TMC8 0
- TMEM216 0
- TMEM237 0
- TMEM43 2
- TMEM67 1
- TMPO 0
- TNFAIP3 1
- TNFRSF13B 1
- TNFRSF13C 1
- TNFRSF1A 1
- TNNI2 1
- TNNT1 2
- TNNT3 1
- TNXB 0
- TPM2 1
- TPM3 1
- TRAC 1
- TRAPPC2 1
- TRH 0
- TRIM32 1
- TRIM37 2
- TRIP11 0
- TRPM2 0
- TSC1 2
- TSC2 2
- TSEN54 1
- TSFM 0
- TSPEAR 0
- TSPYL1 0
- TSR2 1
- TTC21B 1
- TTC37 1
- TTC7A 2
- TTR 1
- TUBA8 0
- TUBB4B 1
- TWIST1 2
- TWNK 1
- TYMP 1
- TYR 2
- UBA1 0
- UBR1 1
- UCP2 1
- UGT1A4 0
- UGT1A5 0
- UMOD 1
- UQCRB 0
- UQCRQ 0
- UROD 3
- UTP4 0
- VCAN 2
- VCP 2
- VIPAS39 2
- VLDLR 1
- VPS13A 1
- VPS13B 1
- VPS33B 1
- VPS53 0
- VSX1 0
- WDR19 0
- WDR35 0
- WDR36 0
- WDR62 1
- WFS1 1
- WNT3 0
- WNT5A 0
- WNT7A 0
- WRAP53 1
- WRN 1
- YARS2 0
- ZEB2 1
- ZFPM2 0
- ZIC2 1
- ZIC3 1
- ZMPSTE24 2
- ZNF143 2
- ZNF252P 0
- ZNF469 1
- ZNF674 0
STRs in panel
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BabyScreen+ newborn screening
Gene: OTX2 Green List (high evidence)
OTX2 (orthodenticle homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000165588
EnsemblGeneIds (GRCh37): ENSG00000165588
OMIM: 600037, Gene2Phenotype
OTX2 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000165588
EnsemblGeneIds (GRCh37): ENSG00000165588
OMIM: 600037, Gene2Phenotype
OTX2 is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Green List (high evidence)
Variants in this gene have been associated with pituitary hormone deficiency with or without microphthalmia, including of TSH.
Congenital onset.
Microphthalmia would present clinically in the newborn period. Infants with TSH deficiency should be detected by standard NBS.
Treatment: thyroxine and other hormone replacements.
Sources: Expert listCreated: 27 Mar 2023, 3:36 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pituitary hormone deficiency, combined, 6, MIM# 613986
Publications
Created: 27 Mar 2023, 3:36 a.m.
Panel version: 0.2114
Panel version: 0.2114
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Pituitary hormone deficiency, combined, 6, MIM# 613986
- Tags
- treatable endocrine
- OMIM
- 600037
- Clinvar variants
- Variants in OTX2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Congenital hypothyroidism
- Anophthalmia_Microphthalmia_Coloboma
- Fetal anomalies
- Mendeliome
- BabyScreen+ newborn screening
- Macular Dystrophy/Stargardt Disease
- Pituitary hormone deficiency
- Mandibulofacial Acrofacial dysostosis
- Intellectual disability syndromic and non-syndromic
- Callosome
- Genetic Epilepsy
- Growth failure
History Filter Activity
27 Mar 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: otx2 has been classified as Green List (High Evidence).
27 Mar 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: otx2 has been classified as Green List (High Evidence).
27 Mar 2023, Gel status: 1
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: OTX2 was added gene: OTX2 was added to Baby Screen+ newborn screening. Sources: Expert list treatable, endocrine tags were added to gene: OTX2. Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OTX2 were set to 18728160; 35320640; 33950863 Phenotypes for gene: OTX2 were set to Pituitary hormone deficiency, combined, 6, MIM# 613986 Review for gene: OTX2 was set to GREEN