Genes in panel
- AAAS 0
- AARS 0
- ABCA12 0
- ABCA3 0
- ABCA4 0
- ABCB11 0
- ABCB4 0
- ABCC2 1
- ABCC6 0
- ABCC8 0
- ABCD1 0
- ABCG5 0
- ACAD8 0
- ACAD9 0
- ACADM 0
- ACADVL 0
- ACAT1 0
- ACE 0
- ACOX1 0
- ACTG1 0
- ACTG2 0
- ACTN1 0
- ACTN4 0
- ACVR1 0
- ACVRL1 0
- ADA 0
- ADAMTS13 0
- ADAMTSL2 0
- ADAR 0
- ADGRG1 0
- ADGRV1 1
- ADK 0
- AGA 0
- AGL 0
- AGRN 0
- AGXT 0
- AHI1 0
- AIFM1 0
- AIRE 0
- AKR1D1 0
- ALAS2 0
- ALB 0
- ALDH18A1 0
- ALDH3A2 0
- ALDH5A1 0
- ALDH7A1 1
- ALDOB 0
- ALG1 0
- ALG12 0
- ALG3 0
- ALG6 0
- ALG8 0
- ALG9 1
- ALMS1 0
- ALOX12B 0
- ALOXE3 0
- ALPL 0
- ALS2 0
- ALX4 0
- AMELX 0
- AMN 0
- AMT 0
- ANK1 0
- ANK2 1
- ANKH 0
- ANKRD26 1
- ANO10 0
- ANTXR2 0
- AP3B1 0
- AP4B1 1
- AP4E1 1
- AP4M1 1
- APC 0
- APOB 1
- APRT 1
- APTX 0
- AR 2
- ARFGEF2 0
- ARG1 0
- ARID1B 0
- ARMC4 0
- ARSA 0
- ARSB 0
- ARX 0
- ASL 0
- ASPA 0
- ASS1 0
- ATM 0
- ATP1A2 0
- ATP2A1 0
- ATP2B2 1
- ATP6V0A2 0
- ATP6V1B1 0
- ATP7A 1
- ATP7B 0
- ATP8B1 0
- ATRX 0
- AUH 0
- AVPR2 0
- B3GLCT 0
- BAAT 0
- BBS1 0
- BBS10 0
- BBS12 0
- BBS2 0
- BBS4 0
- BBS5 0
- BBS7 0
- BBS9 0
- BCHE 1
- BCKDHA 0
- BCKDHB 0
- BCS1L 0
- BICD2 0
- BIN1 0
- BLM 0
- BMPR1A 1
- BRAF 1
- BSCL2 1
- BSND 0
- BTD 0
- BTK 0
- CA2 0
- CABP2 0
- CACNA1A 0
- CACNA1F 0
- CAPN3 0
- CARD11 1
- CASK 0
- CASQ2 0
- CAV3 1
- CAVIN1 0
- CBL 0
- CBS 0
- CC2D2A 0
- CCDC39 0
- CCDC40 0
- CD3D 1
- CD40LG 0
- CDAN1 0
- CDC14A 1
- CDH23 0
- CDK5RAP2 1
- CDKL5 0
- CDKN1C 0
- CDSN 0
- CDT1 1
- CEP152 0
- CEP290 0
- CEP78 1
- CEP83 1
- CFC1 0
- CFL2 0
- CFP 0
- CFTR 0
- CHAT 0
- CHD2 0
- CHD7 0
- CHKB 0
- CHM 0
- CHRNA1 0
- CHRND 0
- CHRNE 0
- CHRNG 0
- CIB2 1
- CLCN5 0
- CLCN7 1
- CLDN14 0
- CLDN19 0
- CLN3 0
- CLN5 0
- CLN6 0
- CLN8 0
- CLPP 1
- CLRN1 0
- CNGB3 0
- COCH 1
- COG5 1
- COL11A1 0
- COL11A2 0
- COL17A1 0
- COL1A1 1
- COL1A2 0
- COL2A1 0
- COL3A1 0
- COL4A3 0
- COL4A4 0
- COL4A5 0
- COL5A1 0
- COL5A2 0
- COL6A1 0
- COL6A2 0
- COL6A3 0
- COL7A1 0
- COL9A1 1
- COL9A2 1
- COL9A3 1
- COLQ 0
- CPS1 0
- CPT1A 0
- CPT2 0
- CREBBP 0
- CRLF1 0
- CRTAP 0
- CSF2RA 1
- CSTB 0
- CTC1 0
- CTNS 0
- CTSD 0
- CTSK 0
- CUBN 0
- CUL7 0
- CYBA 0
- CYBB 0
- CYP11A1 0
- CYP11B1 0
- CYP21A2 0
- CYP27A1 0
- CYP27B1 0
- CYP4F22 0
- D2HGDH 0
- DBT 0
- DCLRE1C 0
- DCX 1
- DDB2 0
- DDC 0
- DFNA5 0
- DFNB59 0
- DGUOK 0
- DHCR7 0
- DIAPH1 1
- DLD 0
- DLL3 0
- DMP1 0
- DMPK 0
- DMXL2 1
- DNAAF1 0
- DNAH11 0
- DNAH5 0
- DNAI1 0
- DNAJB6 0
- DNM2 0
- DNMT3B 0
- DOCK8 0
- DOK7 0
- DOLK 1
- DPAGT1 0
- DUOX2 0
- DUOXA2 1
- DYSF 0
- EDA 0
- EDAR 0
- EDARADD 0
- EDN3 1
- EDNRB 1
- EFTUD2 0
- EGR2 0
- EIF2AK3 0
- ELANE 0
- ELN 0
- ELP1 0
- EMD 0
- ENG 0
- ENPP1 0
- EPM2A 0
- EPS8 1
- EPS8L2 1
- ERCC2 0
- ERCC5 0
- ERCC6 0
- ERCC8 0
- ESCO2 0
- ESPN 1
- ESRRB 0
- ETFA 0
- ETFB 0
- ETFDH 0
- ETHE1 0
- EVC 0
- EVC2 0
- EXT1 0
- EXT2 0
- EYA1 0
- EYA4 0
- EZH2 0
- F10 1
- F11 0
- F13A1 1
- F2 0
- F5 1
- F7 1
- F8 0
- F9 0
- FAH 0
- FAM126A 0
- FAM161A 0
- FAM20C 0
- FAM58A 0
- FANCA 0
- FANCB 0
- FANCC 0
- FANCD2 0
- FANCG 0
- FANCI 0
- FBN1 1
- FBN2 1
- FBP1 1
- FGA 0
- FGB 0
- FGD1 0
- FGD4 0
- FGF3 0
- FGFR1 0
- FGFR2 0
- FGFR3 1
- FGG 0
- FH 1
- FKRP 0
- FKTN 0
- FLCN 0
- FLNA 0
- FOXC1 0
- FOXC2 0
- FOXF1 0
- FOXI1 1
- FOXP3 0
- FRAS1 0
- FTL 0
- FUCA1 0
- FXN 0
- G6PC 0
- G6PC3 0
- G6PD 0
- GAA 0
- GALC 0
- GALK1 0
- GALNS 0
- GALT 0
- GAN 0
- GATA2 2
- GATA3 1
- GATA4 0
- GBA 0
- GCDH 0
- GCK 0
- GDAP1 0
- GFAP 0
- GFM1 0
- GFPT1 0
- GGCX 1
- GIF 2
- GIPC3 0
- GJA1 0
- GJB1 0
- GJB2 0
- GJC2 0
- GLA 0
- GLB1 0
- GLDC 0
- GLI3 0
- GLRA1 0
- GLUD1 0
- GNAS 0
- GNE 0
- GNPTAB 0
- GNPTG 0
- GNS 0
- GPC3 0
- GPR143 0
- GPSM2 0
- GRHL2 2
- GRHPR 0
- GRXCR1 1
- GSS 0
- GUSB 0
- GYS2 0
- HADH 1
- HADHA 0
- HADHB 0
- HARS2 1
- HBA1 0
- HBA2 0
- HBB 0
- HDAC8 0
- HEXA 0
- HEXB 0
- HGD 0
- HGF 1
- HGSNAT 0
- HINT1 0
- HLCS 0
- HMGCL 0
- HNF4A 1
- HOMER2 1
- HPRT1 0
- HPS1 0
- HPS3 0
- HPS4 0
- HPS5 0
- HRAS 0
- HSD17B10 0
- HSD17B3 0
- HSD17B4 0
- HSD3B2 1
- HSD3B7 0
- HSPB8 0
- HSPG2 0
- HTRA1 0
- IDS 0
- IDUA 0
- IGHMBP2 0
- IGSF1 0
- IKBKG 0
- IL10RA 0
- IL2RG 0
- IL7R 1
- ILDR1 0
- INS 1
- INSR 0
- INVS 0
- IQCB1 0
- IRF6 1
- ISPD 0
- ITGA3 1
- ITGB4 0
- IVD 0
- IYD 2
- JAG1 0
- JAK3 0
- KANSL1 0
- KARS 1
- KAT6B 1
- KBTBD13 0
- KCNA1 0
- KCNJ1 0
- KCNJ11 0
- KCNJ2 0
- KCNQ4 0
- KCTD7 0
- KDM6A 0
- KIF21A 0
- KIT 0
- KLF1 1
- KLHL40 0
- KLHL41 0
- KMT2D 0
- KRAS 0
- KRT14 0
- KRT16 0
- KRT17 0
- KRT5 0
- KRT6A 0
- L1CAM 0
- LAMA2 0
- LAMA3 0
- LAMB2 0
- LAMB3 0
- LAMC2 0
- LAMP2 0
- LARGE1 0
- LARS2 1
- LDLR 0
- LEPR 0
- LHFPL5 0
- LHX3 0
- LIFR 0
- LIG4 1
- LIPA 0
- LITAF 0
- LMBRD1 0
- LMOD3 0
- LMX1B 0
- LOXHD1 0
- LRP2 0
- LRP4 0
- LRP5 0
- LRPPRC 0
- LRRC6 0
- LRSAM1 0
- LRTOMT 0
- LTBP4 0
- LYST 0
- MAFB 0
- MAGI2 0
- MAN2B1 0
- MAP2K1 0
- MAP2K2 0
- MARVELD2 0
- MBTPS2 0
- MCFD2 0
- MCOLN1 0
- MCPH1 0
- MECP2 0
- MED12 0
- MED25 1
- MEFV 0
- MEGF10 0
- MEN1 0
- MFN2 0
- MFSD8 0
- MGAT2 1
- MGP 0
- MITF 0
- MKKS 0
- MKS1 0
- MLC1 0
- MLYCD 0
- MMAA 0
- MMAB 0
- MMACHC 0
- MMADHC 0
- MOCS1 0
- MOCS2 0
- MPDU1 1
- MPI 0
- MPL 0
- MPV17 0
- MPZ 0
- MSX2 0
- MTM1 0
- MTR 0
- MTRR 0
- MTTP 0
- MUSK 0
- MUT 0
- MUTYH 0
- MVK 0
- MYBPC1 1
- MYCN 0
- MYH14 0
- MYH2 0
- MYH3 0
- MYH7 2
- MYH9 0
- MYO15A 0
- MYO3A 0
- MYO6 0
- MYO7A 0
- NAGA 0
- NAGLU 0
- NAGS 0
- NBN 0
- NCF1 0
- NCF2 0
- NDP 0
- NEB 0
- NEFL 0
- NEK1 1
- NEK8 1
- NEU1 0
- NEUROG3 1
- NF1 0
- NF2 0
- NGLY1 0
- NHEJ1 0
- NHLRC1 0
- NIPAL4 0
- NIPBL 0
- NKX2-1 0
- NOG 0
- NOTCH2 0
- NOTCH3 0
- NPC1 0
- NPC2 0
- NPHP1 0
- NPHP3 0
- NPHP4 0
- NPHS1 0
- NR0B1 0
- NSD1 0
- NTRK1 1
- OBSL1 0
- OCA2 0
- OCRL 0
- OFD1 0
- OPA1 0
- ORC1 0
- OSMR 0
- OSTM1 0
- OTC 0
- OTOA 0
- OTOF 0
- OTOGL 0
- P2RY12 2
- PAH 0
- PAK3 0
- PALB2 1
- PANK2 0
- PAX3 0
- PAX6 0
- PAX8 0
- PC 0
- PCCA 0
- PCCB 0
- PCDH15 0
- PCNT 0
- PDE4D 0
- PDHA1 0
- PDHX 0
- PDX1 1
- PDZD7 0
- PEX1 0
- PEX10 0
- PEX12 0
- PEX13 0
- PEX2 0
- PEX26 0
- PEX3 0
- PEX5 0
- PEX6 0
- PEX7 0
- PFKM 0
- PHF6 0
- PHKA2 0
- PHKB 0
- PHKG2 0
- PHYH 0
- PIEZO2 0
- PIGA 1
- PIK3CD 1
- PINK1 0
- PKD1 0
- PKD2 0
- PKHD1 0
- PKLR 0
- PLA2G6 0
- PLCE1 0
- PLEC 0
- PLG 1
- PLOD1 0
- PLP1 0
- PLS1 1
- PMM2 0
- PMP22 0
- PNKD 0
- PNKP 0
- PNPO 0
- POLG 0
- POLH 0
- POMGNT1 0
- POMT1 0
- POMT2 0
- POR 0
- PORCN 0
- POU1F1 0
- POU3F4 0
- POU4F3 0
- PPT1 0
- PQBP1 0
- PRF1 0
- PRKAR1A 0
- PROC 0
- PROKR2 0
- PROP1 0
- PROS1 0
- PRX 0
- PSAP 0
- PTCH1 0
- PTEN 0
- PTH1R 0
- PTPN11 0
- PTPRC 1
- PTS 0
- PYGL 0
- PYGM 1
- QDPR 0
- RAB23 0
- RAB27A 0
- RAB3GAP1 0
- RAB3GAP2 1
- RAB7A 0
- RAF1 0
- RAG1 0
- RAG2 0
- RAI1 0
- RAPSN 0
- RASA1 0
- RB1 0
- RBM8A 0
- RDX 1
- RECQL4 0
- REN 0
- RET 0
- RETREG1 1
- RMRP 0
- RNASEH2A 0
- RNASEH2B 0
- RNASEH2C 0
- ROR2 0
- RPGR 0
- RPGRIP1L 0
- RPL11 0
- RPL5 0
- RPS15 0
- RPS17 0
- RPS19 0
- RPS24 0
- RPS26 0
- RPS6KA3 0
- RRM2B 0
- RS1 0
- RSPH4A 0
- RSPH9 0
- RUNX2 0
- RYR1 1
- RYR2 0
- SACS 0
- SALL1 0
- SAMHD1 0
- SBDS 0
- SCN11A 0
- SCN1A 0
- SCNN1A 0
- SCNN1B 1
- SCO2 0
- SDHD 0
- SELENON 0
- SEPT9 0
- SERPINA1 1
- SETBP1 0
- SETX 0
- SFTPB 0
- SFTPC 1
- SGCA 0
- SGCB 0
- SGCD 1
- SGCG 0
- SGSH 0
- SH2D1A 0
- SH3TC2 0
- SHANK3 1
- SHH 0
- SIL1 0
- SIX1 0
- SIX3 0
- SKI 0
- SLC12A1 0
- SLC12A3 0
- SLC12A6 0
- SLC16A2 0
- SLC17A5 0
- SLC19A2 0
- SLC19A3 0
- SLC22A5 0
- SLC25A13 0
- SLC25A15 0
- SLC25A20 0
- SLC25A38 0
- SLC25A4 0
- SLC26A2 0
- SLC26A3 0
- SLC26A4 0
- SLC27A4 0
- SLC2A1 0
- SLC2A10 0
- SLC34A2 0
- SLC34A3 0
- SLC35D1 0
- SLC37A4 0
- SLC39A4 0
- SLC3A1 0
- SLC45A2 0
- SLC46A1 0
- SLC4A1 0
- SLC4A11 0
- SLC5A2 0
- SLC5A5 0
- SLC6A19 1
- SLC6A5 0
- SLC6A8 0
- SLC7A7 0
- SLC7A9 0
- SLC9A6 0
- SLCO2A1 1
- SMAD3 0
- SMAD4 0
- SMARCAL1 0
- SMC1A 0
- SMN1 0
- SMPD1 0
- SMPX 0
- SOX10 0
- SOX9 0
- SP110 0
- SPEG 1
- SPINK5 0
- SPR 0
- SPRED1 0
- SPTA1 0
- SPTB 0
- SPTLC1 0
- SRCAP 0
- STAC3 1
- STAR 0
- STAT3 0
- STK11 0
- STRA6 0
- STRC 0
- STS 0
- STX11 0
- STXBP1 0
- STXBP2 0
- SUCLA2 0
- SUCLG1 0
- SUOX 0
- SURF1 0
- TAT 0
- TAZ 0
- TBC1D24 0
- TBX1 0
- TBX5 0
- TCIRG1 0
- TCOF1 0
- TECTA 0
- TFAP2A 0
- TFAP2B 0
- TFG 0
- TG 0
- TGFBR1 0
- TGFBR2 0
- TGM1 0
- TGM5 0
- TH 0
- THRA 0
- THRB 0
- TIMM8A 0
- TK2 0
- TMC1 0
- TMEM43 0
- TMEM67 0
- TMIE 0
- TMPRSS3 0
- TNFRSF11B 0
- TNFSF11 0
- TNNI2 0
- TNNT1 0
- TNNT3 0
- TP53 0
- TPM2 0
- TPM3 0
- TPO 0
- TPP1 0
- TRAPPC2 0
- TREX1 0
- TRIM32 0
- TRIM37 0
- TRIOBP 0
- TRMU 0
- TRPM4 0
- TSC1 0
- TSC2 0
- TSEN54 0
- TSHB 0
- TSHR 0
- TTC21B 1
- TTC37 0
- TTC7A 0
- TTPA 0
- TTR 0
- TWIST1 0
- TWNK 0
- TYMP 0
- TYR 0
- UBR1 0
- UGT1A1 0
- UMOD 0
- UNC13D 0
- UROD 0
- UROS 0
- USH1C 0
- USH1G 0
- USH2A 0
- VCAN 0
- VCP 0
- VDR 0
- VHL 0
- VIPAS39 0
- VLDLR 0
- VPS13A 0
- VPS13B 0
- VPS33B 0
- WAS 0
- WDR62 0
- WFS1 0
- WHRN 1
- WRAP53 1
- WRN 0
- XPA 0
- XPC 0
- ZAP70 0
- ZEB2 0
- ZIC2 0
- ZIC3 0
- ZMPSTE24 0
- ZNF469 0
- ACTA2 0
- AIP 2
- BMPR2 0
- CACNA1C 0
- CDKN2A 0
- CP 0
- CRYAB 0
- DES 0
- DKC1 0
- DMD 0
- DSC2 0
- DSG2 0
- DSP 0
- GABRG2 2
- GCH1 0
- GJA5 0
- GPD1L 0
- JUP 0
- KCNA5 0
- KCNE1 0
- KCNE2 0
- KCNH2 0
- KCNQ1 1
- KRIT1 2
- LMNA 0
- MCCC1 0
- MTHFR 0
- MYH11 0
- MYL2 0
- MYL3 0
- MYLK 0
- NKX2-5 0
- PCSK9 0
- PHOX2B 0
- PKP2 0
- RBM20 0
- SCN5A 0
- SDHAF2 0
- SDHB 0
- SDHC 0
- SNTA1 0
- TERC 0
- TERT 0
- TINF2 0
- TNNC1 0
- TNNI3 0
- TNNT2 0
- TPM1 0
- TTN 0
- VCL 0
- VWF 0
- WT1 0
- AARS2 0
- ABAT 0
- ABCB7 0
- ABCC9 0
- ABCD4 0
- ACADL 0
- ACADS 1
- ACADSB 0
- ACBD5 0
- ACO2 0
- ACSF3 1
- ACTA1 0
- ACTB 0
- ACTC1 0
- ACTN2 0
- ACVR2B 0
- ADAM17 0
- ADAMTS2 0
- AGPS 0
- AGT 0
- AGTR1 0
- AHSP 0
- AK1 0
- AKAP9 0
- AKT2 0
- AKT3 0
- ALDH1A2 0
- ALDH4A1 0
- ALDOA 0
- ALG11 0
- ALG2 0
- AMACR 0
- AMPD1 0
- ANKRD1 0
- ANO5 0
- AP1S3 0
- APOE 0
- APP 0
- ARHGAP31 0
- ARHGEF9 0
- ARID1A 0
- ARL13B 0
- ARSE 0
- ASCL1 0
- ASNS 0
- ATIC 0
- ATN1 0
- ATP1A3 0
- ATP6AP2 0
- ATR 0
- AXL 0
- B3GAT3 0
- B4GALT1 0
- B9D2 0
- BAG3 0
- BANF1 0
- BARD1 0
- BCL9 0
- BDNF 0
- BLOC1S3 0
- BLOC1S6 0
- BNC2 0
- BPGM 0
- BRCA1 0
- BRCA2 0
- BVES 0
- C3 0
- CACNA1D 0
- CACNA1S 0
- CACNA2D1 0
- CACNB2 0
- CARS2 0
- CASP10 0
- CAVIN4 0
- CCDC103 0
- CCDC50 2
- CCDC78 0
- CCDC88C 0
- CD2AP 0
- CD36 0
- CD46 0
- CD96 0
- CDH1 0
- CDON 0
- CEACAM16 0
- CENPJ 0
- CEP41 0
- CFB 0
- CFD 0
- CFH 0
- CFHR1 0
- CFHR3 0
- CFHR4 0
- CFHR5 0
- CFI 0
- CHEK2 0
- CHRM2 0
- CHRNA2 0
- CHRNB1 0
- CHST3 0
- CHSY1 0
- CISD2 0
- CITED2 0
- CLCN1 1
- CLDN1 0
- CLMP 0
- CNTNAP2 0
- COG4 0
- COG7 0
- COQ2 0
- COQ6 0
- COX4I2 0
- CPOX 0
- CPZ 0
- CR2 0
- CRELD1 0
- CSF1R 0
- CSF2RB 0
- CSRP3 0
- CSTA 0
- CTDP1 0
- CTF1 0
- CYCS 0
- CYP7A1 0
- CYP7B1 0
- DAG1 0
- DAPK3 0
- DBH 0
- DCTN1 0
- DDHD1 0
- DDOST 0
- DDR2 0
- DECR1 0
- DGKE 0
- DHCR24 0
- DIABLO 0
- DLC1 0
- DNAAF2 0
- DNAAF3 0
- DNAAF5 0
- DNAI2 0
- DNAJC19 0
- DNAJC5 0
- DNAL1 0
- DPM1 0
- DPP6 0
- DPYD 0
- DTHD1 0
- DTNA 0
- DTNBP1 0
- ECE1 0
- EFEMP2 0
- EFHC1 1
- EIF2B1 0
- EPB42 0
- EPCAM 0
- EPHX1 0
- ERBB3 0
- ERCC1 0
- ERCC3 0
- ERCC4 0
- F13B 1
- FAAH2 0
- FAM111B 0
- FANCE 0
- FANCF 0
- FANCL 0
- FANCM 0
- FBLN5 0
- FHL1 0
- FHL2 0
- FKBPL 0
- FLG 0
- FLNC 0
- FMO3 0
- FOXE1 0
- FOXF2 0
- FOXH1 0
- FOXN1 0
- FREM1 0
- FREM2 0
- FSCN2 0
- FTCD 0
- GABRA1 0
- GATA1 0
- GATA5 0
- GATA6 0
- GATAD1 0
- GBE1 0
- GCLC 0
- GCSH 0
- GDF1 0
- GDNF 0
- GFER 0
- GLE1 0
- GLI2 0
- GLIS3 0
- GLRB 0
- GLUL 0
- GMPPA 0
- GPC4 0
- GPC6 0
- GPHN 0
- GPX1 0
- GRIN2A 0
- GTF2H5 0
- GUCY2C 0
- GYG1 0
- H19 1
- HAMP 0
- HARS 0
- HAS2 0
- HCCS 0
- HCN4 0
- HERC2 0
- HESX1 0
- HFE 0
- HFE2 0
- HIBCH 0
- HK1 0
- HMBS 0
- HNF1B 0
- HOMEZ 0
- HOXA1 0
- HPD 0
- HPS6 0
- HYDIN 0
- HYLS1 0
- IFT122 0
- IFT43 0
- IFT80 0
- IGBP1 0
- IGF1 0
- IL10RB 0
- ILK 0
- IRS1 0
- ISCU 0
- ISL1 0
- ITGA6 0
- ITGA7 0
- JPH2 0
- KCND3 0
- KCNE3 0
- KCNE5 0
- KCNJ18 0
- KCNJ5 0
- KCNJ8 0
- KCNQ1OT1 0
- KCNQ2 0
- KCNQ3 0
- KDM5B 0
- KIF1B 0
- KIF1BP 0
- KIF22 0
- KPTN 0
- KRT18 0
- KRT6B 0
- KRT8 0
- LAMA4 0
- LARS 0
- LBR 0
- LDB3 0
- LGI1 0
- LHB 0
- LMNB2 0
- LPIN2 0
- LPP 0
- LRRK2 0
- LUM 0
- LYZ 0
- MAPK10 0
- MAPT 0
- MAT1A 0
- MATN4 0
- MCCC2 1
- MCEE 0
- MED13L 0
- MED20 0
- MESP2 0
- MIB1 0
- MIR96 0
- MLH1 0
- MLPH 0
- MOGS 0
- MRPS16 0
- MRPS22 0
- MSH2 0
- MSH6 0
- MSRB3 1
- MT-ND1 0
- MT-ND4 0
- MT-ND6 0
- MTO1 0
- MUC5B 0
- MYBPC3 0
- MYH6 0
- MYLK2 0
- MYO1C 0
- MYO1E 0
- MYO1F 0
- MYO5A 0
- MYOM1 0
- MYOT 0
- MYOZ2 0
- MYPN 0
- NAA10 0
- NAA15 0
- NCF4 0
- NEBL 0
- NECTIN1 0
- NEDD4L 0
- NEXN 0
- NFATC1 0
- NHP2 0
- NIN 0
- NKX3-2 0
- NLGN3 0
- NLGN4X 0
- NLRP7 0
- NME8 0
- NOP10 0
- NOTCH1 0
- NPPA 0
- NR1H4 0
- NRG1 0
- NRXN1 0
- NSDHL 0
- NUB1 0
- NUP155 0
- NUP62 0
- OPA3 0
- ORC4 0
- ORC6 0
- OTOG 1
- OTUD4 0
- P2RX2 0
- PABPN1 0
- PDE11A 0
- PDLIM3 0
- PDP1 0
- PDSS1 0
- PDSS2 0
- PEX11B 0
- PEX14 0
- PEX16 0
- PEX19 0
- PHKA1 0
- PHOX2A 0
- PLN 0
- PLOD2 0
- PMS2 0
- PNPLA1 0
- PODXL 0
- POMC 0
- PPOX 0
- PRDM16 0
- PREPL 0
- PRICKLE1 0
- PRKAG2 0
- PRKCSH 0
- PRODH 0
- PRPS1 1
- PRRX1 0
- PSAT1 0
- PSEN1 0
- PSEN2 0
- RAB10 0
- RAD51B 0
- RANGRF 0
- RELN 0
- RFX6 0
- RHAG 0
- RPL35A 0
- RPS10 0
- RPS7 0
- SC5D 0
- SCN1B 0
- SCN2B 0
- SCN3B 0
- SCN4A 0
- SCN4B 0
- SCNN1G 0
- SCO1 0
- SCP2 0
- SEC63 0
- SEMA3A 0
- SERPINB6 0
- SERPINC1 0
- SERPIND1 0
- SFTPA2 0
- SH3BP2 0
- SHOC2 0
- SIX2 0
- SIX5 0
- SLC11A2 0
- SLC12A5 0
- SLC16A1 0
- SLC16A12 0
- SLC25A12 0
- SLC25A22 0
- SLC27A5 0
- SLC33A1 0
- SLC35A1 0
- SLC35A2 0
- SLC35C1 0
- SLC41A1 1
- SLC4A10 0
- SLC4A4 0
- SLC6A2 0
- SLC9A3R1 0
- SLCO1B1 0
- SLCO1B3 0
- SMAD1 0
- SMAD6 0
- SMAD9 0
- SMO 0
- SNAP29 0
- SOD1 0
- SOX18 0
- SP7 0
- SPTLC2 0
- ST14 0
- ST3GAL5 0
- SYNE4 0
- SYT14 0
- TAB2 0
- TARDBP 0
- TBCE 0
- TBX20 0
- TCAP 0
- TCTN1 0
- TCTN3 0
- TFR2 0
- TGFB1 0
- TGFB3 0
- TGIF1 0
- THBD 0
- THBS1 0
- TJP2 0
- TMC8 0
- TMEM216 0
- TMEM237 0
- TMPO 0
- TNXB 0
- TPRN 0
- TRDN 0
- TRH 0
- TRHR 0
- TRIP11 0
- TRPM2 0
- TSFM 0
- TSPEAR 0
- TSPYL1 0
- TUBA8 0
- UBA1 0
- UCP2 0
- UGT1A4 0
- UGT1A5 0
- UQCRB 0
- UQCRQ 0
- UTP4 0
- VAMP1 0
- VPS53 0
- VSX1 0
- WDR19 0
- WDR35 0
- WDR36 0
- WNK1 0
- WNT3 0
- WNT5A 0
- WNT7A 0
- YARS2 0
- ZFPM2 0
- ZNF252P 0
- ZNF674 0
- LMX1A 1
- MPZL2 1
- OSBPL2 1
STRs in panel
Prev
Next
Regions in panel
Prev
Next
Additional findings_Paediatric
Gene: GGCX Green List (high evidence)
GGCX (gamma-glutamyl carboxylase)
EnsemblGeneIds (GRCh38): ENSG00000115486
EnsemblGeneIds (GRCh37): ENSG00000115486
OMIM: 137167, Gene2Phenotype
GGCX is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000115486
EnsemblGeneIds (GRCh37): ENSG00000115486
OMIM: 137167, Gene2Phenotype
GGCX is in 7 panels
1 review
Lilian Downie (Victorian Clinical Genetics Services)
Green List (high evidence)
Deficiency of all vitamin K-dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Can cause fatal haemmorhage in the first few weeks of life. Non reviewed by Babyseq, included in NC NEXUS list.
Sources: Expert listCreated: 5 Oct 2020, 10:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450
Created: 5 Oct 2020, 10:26 a.m.
Panel version: 0.101
Panel version: 0.101
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450
- OMIM
- 137167
- Clinvar variants
- Variants in GGCX
- Penetrance
- None
- Panels with this gene
History Filter Activity
6 Oct 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ggcx has been classified as Green List (High Evidence).
6 Oct 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ggcx has been classified as Green List (High Evidence).
5 Oct 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Lilian Downie (Victorian Clinical Genetics Services)gene: GGCX was added gene: GGCX was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GGCX were set to Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450 Review for gene: GGCX was set to GREEN