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: CD3G Green List (high evidence)
CD3G (CD3g molecule)
EnsemblGeneIds (GRCh38): ENSG00000160654
EnsemblGeneIds (GRCh37): ENSG00000160654
OMIM: 186740, Gene2Phenotype
CD3G is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000160654
EnsemblGeneIds (GRCh37): ENSG00000160654
OMIM: 186740, Gene2Phenotype
CD3G is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Green List (high evidence)
10 affected individuals from 5 unrelated families; homozygous and compound heterozygous variants (splicing, missense and small deletion variants) identified resulting in premature stop codons and truncated protein; multiple mouse models.
All individuals displayed immune deficiency and autoimmunity of variable severity. Some individuals presented at birth with failure to thrive due to lethal SCID features. The most common immunologic profile includes partial T lymphocytopenia and low CD3, with normal B cells, NK cells, and immunoglobulins.
Congenital onset.
Treatment: replacement immunoglobulin
Non-genetic confirmatory testing: immunoglobulin levels
Sources: Expert listCreated: 5 Mar 2023, 6:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 17; CD3 gamma deficient MIM# 615607
Publications
Created: 5 Mar 2023, 6:42 a.m.
Panel version: 0.1918
Panel version: 0.1918
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Immunodeficiency 17
- CD3 gamma deficient MIM# 615607
- Tags
- treatable immunological
- OMIM
- 186740
- Clinvar variants
- Variants in CD3G
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
5 Mar 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cd3g has been classified as Green List (High Evidence).
5 Mar 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cd3g has been classified as Green List (High Evidence).
5 Mar 2023, Gel status: 1
Added Tag, Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: CD3G. Tag immunological tag was added to gene: CD3G.
5 Mar 2023, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CD3G was added gene: CD3G was added to gNBS. Sources: Expert list Mode of inheritance for gene: CD3G was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD3G were set to 31921117 Phenotypes for gene: CD3G were set to Immunodeficiency 17; CD3 gamma deficient MIM# 615607