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: CIITA Green List (high evidence)
CIITA (class II major histocompatibility complex transactivator)
EnsemblGeneIds (GRCh38): ENSG00000179583
EnsemblGeneIds (GRCh37): ENSG00000179583
OMIM: 600005, Gene2Phenotype
CIITA is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000179583
EnsemblGeneIds (GRCh37): ENSG00000179583
OMIM: 600005, Gene2Phenotype
CIITA is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Green List (high evidence)
13 individuals of 11 unrelated families; two mouse models. Homozygous and compound heterozygous variants were identified in these individuals (missense, nonsense and splicing) resulting in premature stop codon and truncated protein, or inactive protein. Affected individuals typically present in infancy with severe (recurrent) respiratory and gastrointestinal tract infections and defective MHC II expression in PBMCs
Treatment: BMT.
Sources: Expert ReviewCreated: 14 Dec 2022, 7:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920
Created: 14 Dec 2022, 7:35 a.m.
Panel version: 0.1451
Panel version: 0.1451
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920
- Tags
- treatable immunological
- OMIM
- 600005
- Clinvar variants
- Variants in CIITA
- Penetrance
- None
- Panels with this gene
History Filter Activity
14 Dec 2022, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ciita has been classified as Green List (High Evidence).
14 Dec 2022, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ciita has been classified as Green List (High Evidence).
14 Dec 2022, Gel status: 1
Added Tag, Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: CIITA. Tag immunological tag was added to gene: CIITA.
14 Dec 2022, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CIITA was added gene: CIITA was added to gNBS. Sources: Expert Review Mode of inheritance for gene: CIITA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CIITA were set to Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920 Review for gene: CIITA was set to GREEN