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
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Additional findings_Paediatric
Gene: GIF Green List (high evidence)
GIF (gastric intrinsic factor)
EnsemblGeneIds (GRCh38): ENSG00000134812
EnsemblGeneIds (GRCh37): ENSG00000134812
OMIM: 609342, Gene2Phenotype
GIF is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000134812
EnsemblGeneIds (GRCh37): ENSG00000134812
OMIM: 609342, Gene2Phenotype
GIF is in 5 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Green List (high evidence)
Created: 6 Oct 2020, 3:07 a.m.
Last Modified: 6 Oct 2020, 3:07 a.m.
Panel version: 0.103
Last Modified: 6 Oct 2020, 3:07 a.m.
Panel version: 0.103
Lilian Downie (Victorian Clinical Genetics Services)
Congenital pernicious anemia (PA), or intrinsic factor deficiency, is a rare disorder characterized by the lack of gastric intrinsic factor in the presence of normal acid secretion and mucosal cytology and the absence of GIF antibodies that are found in the acquired form of pernicious anemia. Childhood onset disease treatable with B12 injections. Not reviewed by Babyseq, on NC NEXUS list.
Sources: Expert listCreated: 5 Oct 2020, 10:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intrinsic factor deficiency # 261000
Created: 5 Oct 2020, 10:17 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
-
- Intrinsic factor deficiency # 261000
- OMIM
- 609342
- Clinvar variants
- Variants in GIF
- 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: gif 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: gif 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: GIF was added gene: GIF was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GIF were set to Intrinsic factor deficiency # 261000