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
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BabyScreen+ newborn screening
Gene: MYD88 Green List (high evidence)
MYD88 (myeloid differentiation primary response 88)
EnsemblGeneIds (GRCh38): ENSG00000172936
EnsemblGeneIds (GRCh37): ENSG00000172936
OMIM: 602170, Gene2Phenotype
MYD88 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000172936
EnsemblGeneIds (GRCh37): ENSG00000172936
OMIM: 602170, Gene2Phenotype
MYD88 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Green List (high evidence)
Immunodeficiency-68 (IMD68) is an autosomal recessive primary immunodeficiency characterized by severe systemic and invasive bacterial infections beginning in infancy or early childhood. The most common organisms implicated are Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas, although other organisms may be observed.
At least 7 families and a mouse model.
Treatment: Prophylactic antibiotic treatment, pneumococcal, meningococcal, haemophilus influenzae vaccines, and immunoglobulin replacement.
Non-genetic confirmatory testing: toll-like receptor function
Sources: Expert listCreated: 22 Mar 2023, 12:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 68, MIM# 612260
Publications
Created: 22 Mar 2023, 12:21 a.m.
Panel version: 0.2033
Panel version: 0.2033
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Immunodeficiency 68, MIM# 612260
- Tags
- treatable immunological
- OMIM
- 602170
- Clinvar variants
- Variants in MYD88
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
22 Mar 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: myd88 has been classified as Green List (High Evidence).
22 Mar 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: myd88 has been classified as Green List (High Evidence).
22 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: MYD88 was added gene: MYD88 was added to Baby Screen+ newborn screening. Sources: Expert list treatable, immunological tags were added to gene: MYD88. Mode of inheritance for gene: MYD88 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYD88 were set to 18669862; 20538326; 31301515 Phenotypes for gene: MYD88 were set to Immunodeficiency 68, MIM# 612260 Review for gene: MYD88 was set to GREEN