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: FBP1 Green List (high evidence)
FBP1 (fructose-bisphosphatase 1)
EnsemblGeneIds (GRCh38): ENSG00000165140
EnsemblGeneIds (GRCh37): ENSG00000165140
OMIM: 611570, Gene2Phenotype
FBP1 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000165140
EnsemblGeneIds (GRCh37): ENSG00000165140
OMIM: 611570, Gene2Phenotype
FBP1 is in 7 panels
1 review
Lilian Downie (Victorian Clinical Genetics Services)
Green List (high evidence)
Fructose-1,6-bisphosphatase deficiency is an autosomal recessive disorder characterized by impaired gluconeogenesis. Patients present with hypoglycemia and metabolic acidosis on fasting and may have episodes of hyperventilation, apnea, hypoglycemia, and ketosis. Although the disorder may be lethal in the newborn period, proper treatment yields an excellent prognosis. No reviewed by Babyseq, included in NC NEXUS.
Sources: Expert listCreated: 6 Oct 2020, 3:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fructose-1,6-bisphosphatase deficiency MIM# 229700
Created: 6 Oct 2020, 3:20 a.m.
Panel version: 0.106
Panel version: 0.106
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Fructose-1,6-bisphosphatase deficiency MIM# 229700
- OMIM
- 611570
- Clinvar variants
- Variants in FBP1
- 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: fbp1 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: fbp1 has been classified as Green List (High Evidence).
6 Oct 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Lilian Downie (Victorian Clinical Genetics Services)gene: FBP1 was added gene: FBP1 was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBP1 were set to Fructose-1,6-bisphosphatase deficiency MIM# 229700 Review for gene: FBP1 was set to GREEN