- Panels
- Prepair 1000+
- MRAP
Genes in panel
- AAAS 2
- AARS2 1
- ABAT 1
- ABCA12 1
- ABCA3 1
- ABCB11 0
- ABCB4 1
- ABCB7 1
- ABCC8 1
- ABCD1 1
- ABHD5 1
- ACAD9 1
- ACADM 1
- ACADVL 1
- ACAT1 1
- ACE 1
- ACO2 1
- ACOX1 1
- ACTA1 1
- ADA 1
- ADA2 1
- ADAMTS13 1
- ADAMTS2 2
- ADAMTSL2 1
- ADAR 1
- ADAT3 1
- ADGRG1 1
- ADGRV1 1
- ADSL 1
- AGA 1
- AGBL5 1
- AGK 0
- AGL 1
- AGPS 1
- AGRN 1
- AGT 1
- AGXT 1
- AHI1 1
- AIFM1 1
- AIMP1 1
- AIPL1 1
- AK2 1
- AKR1D1 1
- ALAD 1
- ALDH18A1 1
- ALDH1A3 1
- ALDH3A2 2
- ALDH5A1 1
- ALDH7A1 1
- ALDOB 1
- ALG1 1
- ALG11 1
- ALG12 1
- ALG3 1
- ALG6 1
- ALG8 1
- ALG9 1
- ALMS1 1
- ALOX12B 2
- ALOXE3 2
- ALPL 1
- ALS2 1
- AMPD2 1
- AMT 2
- ANKS6 1
- ANTXR1 1
- ANTXR2 1
- AP1S2 1
- AP3B2 1
- AP4B1 1
- AP4M1 1
- AP4S1 1
- APOPT1 1
- APTX 1
- AQP2 1
- ARFGEF2 1
- ARG1 1
- ARHGEF9 1
- ARL13B 2
- ARL6 2
- ARMC4 2
- ARPC1B 1
- ARSA 1
- ARSB 1
- ARV1 2
- ARX 2
- ASAH1 2
- ASCC1 1
- ASL 1
- ASNS 1
- ASPA 1
- ASPM 1
- ASS1 1
- ATAD1 1
- ATCAY 1
- ATF6 1
- ATM 2
- ATOH7 1
- ATP13A2 3
- ATP6AP1 1
- ATP6V0A2 1
- ATP6V0A4 1
- ATP6V1B1 1
- ATP7A 1
- ATP7B 2
- ATP8A2 1
- ATP8B1 1
- ATR 1
- ATRX 1
- AUH 1
- B3GALNT2 2
- B3GALT6 1
- B3GAT3 1
- B3GLCT 1
- B4GALNT1 1
- B4GALT7 1
- BBS1 2
- BBS10 1
- BBS12 2
- BBS2 1
- BBS4 1
- BBS5 1
- BBS7 1
- BBS9 1
- BCKDHA 1
- BCKDHB 1
- BCKDK 1
- BCS1L 1
- BGN 3
- BIN1 1
- BLM 1
- BMPER 1
- BMPR1B 1
- BOLA3 1
- BRAT1 1
- BRF1 1
- BRWD3 0
- BSCL2 1
- BSND 1
- BTK 1
- BUB1B 1
- C12orf57 1
- C12orf65 1
- C19orf12 1
- C1QA 2
- C1QB 1
- C1QC 2
- C21orf2 1
- C2CD3 1
- C3 1
- C5 1
- C5orf42 1
- C8orf37 1
- CA2 1
- CABP4 2
- CANT1 1
- CAPN3 1
- CARD11 2
- CARS2 1
- CASK 0
- CASQ2 2
- CASR 1
- CAVIN1 1
- CC2D1A 1
- CC2D2A 1
- CCBE1 1
- CCDC103 1
- CCDC114 1
- CCDC115 1
- CCDC39 1
- CCDC40 1
- CCDC8 2
- CCDC88C 1
- CCNO 1
- CD27 1
- CD3D 1
- CD40 1
- CD40LG 1
- CD55 1
- CDC45 1
- CDH11 1
- CDH23 1
- CDH3 1
- CDK10 1
- CDK5RAP2 1
- CDT1 1
- CENPJ 1
- CEP120 1
- CEP152 1
- CEP290 1
- CEP41 2
- CEP78 1
- CERS3 1
- CFD 1
- CFH 2
- CFI 1
- CFL2 1
- CFP 1
- CFTR 1
- CHAT 1
- CHKB 1
- CHRNA1 1
- CHRND 1
- CHRNE 1
- CHRNG 1
- CHST14 1
- CHST3 1
- CHSY1 1
- CIITA 1
- CISD2 1
- CIT 1
- CKAP2L 1
- CLCF1 1
- CLCN2 1
- CLCN4 1
- CLCN5 1
- CLCN7 1
- CLCNKB 2
- CLDN1 1
- CLDN10 2
- CLDN19 1
- CLMP 1
- CLN3 1
- CLN5 1
- CLN6 1
- CLN8 0
- CLP1 1
- CLPB 1
- CLPP 1
- CLRN1 1
- CNGB3 1
- CNNM4 1
- CNTNAP1 1
- CNTNAP2 1
- COG6 1
- COG7 1
- COL11A1 1
- COL11A2 0
- COL17A1 1
- COL18A1 1
- COL27A1 1
- COL4A3 1
- COL4A4 1
- COL4A5 1
- COL6A1 1
- COL6A2 1
- COL6A3 1
- COL7A1 1
- COLEC11 1
- COLQ 1
- COQ2 1
- COQ4 1
- COQ6 1
- COQ8A 1
- COQ8B 1
- COX10 1
- COX15 1
- COX20 1
- CPS1 1
- CPT1A 1
- CPT2 1
- CRB1 2
- CRB2 1
- CRLF1 1
- CRTAP 1
- CSPP1 0
- CSTB 2
- CTC1 1
- CTNS 1
- CTPS1 1
- CTSA 1
- CTSC 2
- CTSD 2
- CTSF 1
- CTSK 1
- CUL4B 1
- CUL7 1
- CWC27 1
- CYB5R3 1
- CYBA 1
- CYBB 1
- CYP11A1 1
- CYP11B2 1
- CYP17A1 1
- CYP1B1 1
- CYP27A1 2
- CYP2U1 1
- CYP4F22 1
- CYP7B1 1
- D2HGDH 1
- DARS 1
- DARS2 1
- DBT 2
- DCAF17 1
- DCDC2 1
- DCHS1 1
- DCLRE1C 1
- DCX 1
- DDC 1
- DDHD2 1
- DDR2 1
- DDX11 1
- DDX59 1
- DENND5A 1
- DGAT1 1
- DGKE 1
- DGUOK 1
- DHCR24 0
- DHCR7 1
- DHDDS 1
- DHODH 1
- DIS3L2 1
- DKC1 1
- DLD 1
- DLG3 1
- DLL3 1
- DMD 1
- DNAAF1 1
- DNAAF3 1
- DNAAF4 0
- DNAAF5 1
- DNAH11 1
- DNAH5 0
- DNAI1 1
- DNAI2 2
- DNAJC12 1
- DNAJC19 1
- DNAJC21 0
- DNAJC6 0
- DNMT3B 1
- DOCK2 1
- DOCK6 1
- DOCK8 1
- DOK7 1
- DOLK 0
- DONSON 1
- DPAGT1 1
- DPH1 1
- DSP 1
- DYM 1
- DYNC2H1 0
- DYNC2LI1 1
- DYSF 2
- EARS2 1
- ECEL1 1
- ECHS1 1
- EDA 1
- EDAR 1
- EFEMP2 1
- EFNB1 3
- EIF2AK3 1
- EIF2AK4 0
- EIF2B1 1
- EIF2B2 1
- EIF2B3 0
- EIF2B4 1
- EIF2B5 1
- EIF2S3 1
- ELAC2 1
- ELP1 1
- ELP2 1
- EMD 1
- EML1 1
- ENPP1 1
- EOGT 1
- EPCAM 1
- EPG5 1
- EPM2A 1
- ERCC2 1
- ERCC4 0
- ERCC5 0
- ERCC6 1
- ERCC6L2 1
- ERCC8 1
- ESCO2 2
- ETFA 1
- ETFB 1
- ETFDH 1
- ETHE1 1
- EVC 1
- EVC2 1
- EXOSC3 1
- EXOSC8 1
- EXTL3 1
- F2 3
- F7 1
- FA2H 2
- FAH 0
- FAM126A 0
- FAM20C 0
- FANCA 0
- FANCB 1
- FANCC 2
- FANCD2 0
- FANCE 1
- FANCF 1
- FANCG 1
- FANCI 1
- FANCL 0
- FARS2 1
- FAT4 1
- FBLN5 1
- FBP1 0
- FBXL4 1
- FBXO7 1
- FERMT1 1
- FERMT3 0
- FGA 1
- FGB 1
- FGD4 0
- FGG 1
- FH 1
- FHL1 0
- FIG4 1
- FKBP10 1
- FKBP14 0
- FKRP 1
- FKTN 1
- FLAD1 0
- FLNA 1
- FLNB 1
- FLVCR1 1
- FLVCR2 0
- FMR1 2
- FOLR1 1
- FOXE3 1
- FOXN1 1
- FOXP3 1
- FOXRED1 1
- FRAS1 0
- FREM1 2
- FREM2 1
- FRRS1L 1
- FTO 2
- FTSJ1 0
- FUCA1 1
- FYCO1 0
- G6PC 1
- G6PC3 2
- GAA 0
- GALC 1
- GALNS 1
- GALT 1
- GAMT 1
- GAN 1
- GAS8 1
- GATM 1
- GBA2 1
- GBE1 1
- GCDH 1
- GCH1 2
- GDAP1 1
- GDF1 1
- GDF5 1
- GDI1 1
- GFM1 1
- GFPT1 1
- GHR 1
- GJA1 1
- GJB1 3
- GJC2 0
- GLA 2
- GLB1 1
- GLDC 1
- GLDN 0
- GLE1 1
- GLIS3 1
- GLYCTK 1
- GM2A 1
- GMPPA 1
- GMPPB 2
- GNAT2 1
- GNB5 1
- GNE 2
- GNPAT 1
- GNPTAB 1
- GNPTG 0
- GNS 1
- GORAB 1
- GOSR2 1
- GPAA1 1
- GPC3 1
- GPC6 1
- GPHN 1
- GPR143 2
- GPR179 0
- GPSM2 1
- GPT2 1
- GRM1 1
- GSS 1
- GTF2H5 1
- GTPBP3 1
- GUCY1A3 1
- GUCY2C 0
- GUCY2D 1
- GUSB 1
- HACE1 1
- HADH 0
- HADHA 0
- HADHB 1
- HAMP 0
- HAX1 1
- HBB 0
- HCFC1 1
- HEPACAM 1
- HERC2 1
- HES7 1
- HESX1 1
- HEXA 0
- HEXB 1
- HFE2 1
- HGSNAT 1
- HIBCH 1
- HINT1 1
- HK1 2
- HLCS 1
- HMGCL 0
- HMGCS2 0
- HOXA1 1
- HPD 1
- HPGD 2
- HPRT1 1
- HPS1 2
- HPS3 0
- HPS4 1
- HPS5 1
- HPS6 2
- HPSE2 2
- HSD17B10 1
- HSD17B4 2
- HSD3B2 1
- HSD3B7 0
- HSPD1 0
- HSPG2 1
- HTRA2 1
- HUWE1 1
- HYDIN 1
- HYLS1 0
- IARS 1
- IARS2 1
- IBA57 0
- ICOS 1
- IDS 1
- IDUA 0
- IER3IP1 0
- IFNGR1 1
- IFNGR2 1
- IFT122 1
- IFT140 1
- IFT172 0
- IFT80 1
- IGF1R 0
- IGHMBP2 1
- IKBKB 1
- IL10RA 1
- IL10RB 1
- IL11RA 1
- IL12RB1 2
- IL17RA 1
- IL1RAPL1 1
- IL1RN 1
- IL2RG 1
- IL7R 1
- INPP5E 1
- INPP5K 0
- INPPL1 1
- INSR 1
- INVS 0
- IQCB1 1
- IQSEC2 0
- ISCA2 1
- ISPD 1
- ITCH 2
- ITGA6 1
- ITGB2 1
- ITGB4 1
- ITK 0
- ITPR1 1
- IVD 0
- JAGN1 1
- JAK3 1
- JAM3 1
- JUP 1
- KATNB1 1
- KCNJ1 1
- KCNJ10 1
- KCNJ11 2
- KCNQ1 3
- KCNV2 0
- KCTD7 1
- KDM5C 0
- KIAA0586 1
- KIAA1109 0
- KIF14 2
- KIF1A 1
- KIF1BP 1
- KIF1C 1
- KIF7 0
- KLHL40 1
- KLHL41 1
- KLHL7 1
- KNL1 1
- KPTN 1
- KRT10 1
- KRT14 1
- KRT5 1
- KY 1
- L1CAM 0
- L2HGDH 1
- LAMA1 0
- LAMA2 1
- LAMA3 1
- LAMB1 1
- LAMB2 0
- LAMB3 1
- LAMC2 2
- LAMC3 1
- LARGE1 1
- LARP7 1
- LARS 1
- LARS2 0
- LAT 2
- LBR 2
- LCA5 1
- LCAT 2
- LDHA 1
- LDLR 2
- LDLRAP1 1
- LEP 1
- LGI4 1
- LHX3 1
- LIAS 1
- LIFR 0
- LIG4 2
- LINS1 2
- LIPA 0
- LIPC 0
- LIPT1 1
- LMAN1 1
- LMBR1 0
- LMBRD1 1
- LMNA 2
- LMOD3 1
- LONP1 0
- LPIN1 1
- LPIN2 1
- LPL 1
- LRAT 0
- LRBA 1
- LRIG2 0
- LRMDA 0
- LRP2 0
- LRP4 1
- LRP5 1
- LRPPRC 1
- LRRC6 2
- LRSAM1 0
- LTBP3 0
- LTBP4 0
- LYRM7 1
- LYST 0
- LZTFL1 1
- MALT1 1
- MAN1B1 1
- MAN2B1 1
- MANBA 1
- MAOA 1
- MAPKBP1 0
- MARS 1
- MARS2 1
- MASP1 1
- MBOAT7 1
- MBTPS2 0
- MC2R 1
- MCFD2 1
- MCOLN1 1
- MCPH1 1
- MECP2 1
- MED12 0
- MED17 1
- MED23 1
- MED25 1
- MEGF10 0
- MEGF8 1
- MERTK 1
- MESP2 1
- METTL23 0
- MFN2 0
- MFSD2A 1
- MFSD8 1
- MGAT2 1
- MGME1 1
- MGP 1
- MICU1 0
- MID1 1
- MKKS 1
- MKS1 0
- MLC1 0
- MLYCD 1
- MMAA 1
- MMAB 1
- MMACHC 1
- MMADHC 1
- MMP2 0
- MMP21 1
- MOCS1 1
- MOCS2 1
- MPDZ 1
- MPI 1
- MPL 1
- MPLKIP 1
- MPV17 1
- MPZ 2
- MRAP 1
- MRE11 1
- MSTO1 0
- MTFMT 1
- MTHFD1 0
- MTHFR 1
- MTM1 1
- MTMR2 1
- MTO1 1
- MTR 1
- MTRR 1
- MTTP 0
- MUSK 0
- MUT 1
- MVK 1
- MYD88 0
- MYMK 1
- MYO5B 1
- MYO7A 1
- NAA10 1
- NAGA 0
- NAGLU 1
- NAGS 1
- NALCN 1
- NANS 1
- NARS2 1
- NAXE 1
- NBAS 2
- NBN 1
- NCF2 0
- NDE1 0
- NDP 0
- NDRG1 1
- NDUFA1 1
- NDUFA10 1
- NDUFAF2 1
- NDUFAF5 1
- NDUFAF6 1
- NDUFS1 1
- NDUFS2 1
- NDUFS4 0
- NDUFS6 1
- NDUFS7 1
- NDUFS8 1
- NDUFV1 1
- NDUFV2 0
- NEB 2
- NECTIN1 1
- NEK1 1
- NEK8 1
- NEU1 1
- NEXMIF 1
- NFU1 1
- NGF 1
- NGLY1 1
- NHEJ1 1
- NHLRC1 1
- NHS 1
- NIPAL4 1
- NKX3-2 1
- NKX6-2 1
- NMNAT1 1
- NNT 1
- NPC1 2
- NPC2 1
- NPHP1 1
- NPHP3 1
- NPHP4 1
- NPHS1 1
- NPHS2 1
- NPR2 1
- NR0B1 0
- NSDHL 1
- NSUN2 0
- NT5C2 0
- NTRK1 1
- NUBPL 0
- NUP107 0
- NUP93 1
- NYX 1
- OBSL1 1
- OCLN 1
- OCRL 1
- OFD1 1
- OPA1 0
- OPA3 1
- OPHN1 1
- ORAI1 1
- ORC1 1
- ORC6 1
- OSGEP 0
- OSTM1 0
- OTC 0
- OTUD6B 0
- P3H1 1
- PAH 0
- PAK3 0
- PANK2 1
- PAPSS2 1
- PC 1
- PCCA 0
- PCCB 1
- PCDH12 1
- PCDH15 0
- PCDH19 2
- PCNT 1
- PCSK1 0
- PCYT1A 1
- PDE6C 2
- PDHA1 3
- PDHB 1
- PDP1 0
- PEPD 0
- PET100 0
- PEX1 1
- PEX10 1
- PEX11B 1
- PEX12 1
- PEX13 1
- PEX16 1
- PEX2 1
- PEX26 1
- PEX3 1
- PEX5 0
- PEX6 0
- PEX7 0
- PFKM 1
- PGAP1 0
- PGAP2 1
- PGAP3 1
- PGK1 2
- PGM1 1
- PGM3 1
- PHF6 0
- PHF8 1
- PHGDH 1
- PHYH 1
- PIBF1 2
- PIEZO2 1
- PIGA 1
- PIGG 1
- PIGL 1
- PIGN 0
- PIGO 2
- PIGT 1
- PIGV 1
- PIH1D3 1
- PKHD1 1
- PKLR 1
- PLA2G6 1
- PLAA 0
- PLCE1 0
- PLEC 0
- PLG 2
- PLOD1 0
- PLOD2 1
- PLP1 1
- PLPBP 1
- PMM2 1
- PMPCA 1
- PNKP 2
- PNP 0
- PNPLA6 0
- PNPO 1
- POC1A 0
- POLG 0
- POLR1C 1
- POLR3A 0
- POLR3B 0
- POMC 1
- POMGNT1 2
- POMGNT2 1
- POMK 1
- POMP 2
- POMT1 1
- POMT2 0
- POP1 1
- POR 1
- POU1F1 1
- PPA2 0
- PPIB 0
- PPT1 0
- PQBP1 1
- PRDM12 0
- PRDM5 1
- PRF1 1
- PRG4 1
- PRICKLE1 1
- PRKRA 3
- PROC 3
- PROP1 1
- PROS1 0
- PRPS1 1
- PRUNE1 1
- PRX 0
- PSAP 1
- PSAT1 1
- PSMB8 0
- PSPH 0
- PTH1R 1
- PTS 1
- PUS1 0
- PXDN 1
- PYCR1 0
- PYCR2 1
- PYROXD1 1
- QARS 1
- QDPR 0
- RAB18 1
- RAB23 0
- RAB27A 0
- RAB33B 1
- RAB39B 1
- RAB3GAP1 1
- RAB3GAP2 1
- RAD50 0
- RAG1 0
- RAG2 1
- RAPSN 1
- RARB 0
- RARS 1
- RARS2 1
- RAX 1
- RBBP8 1
- RBCK1 1
- RBM10 1
- RCBTB1 1
- RD3 0
- RDH12 1
- RECQL4 1
- REEP6 1
- REN 1
- RETREG1 1
- RFT1 0
- RFX6 0
- RFXANK 1
- RFXAP 1
- RIN2 1
- RIPK4 1
- RLIM 1
- RMND1 1
- RMRP 2
- RNASEH2A 0
- RNASEH2B 1
- RNASEH2C 1
- RNASET2 0
- RNU4ATAC 1
- ROBO3 1
- ROGDI 1
- ROR2 0
- RORC 1
- RP2 1
- RPE65 1
- RPGRIP1 1
- RPGRIP1L 0
- RPL10 3
- RPS6KA3 1
- RRM2B 0
- RSPH1 1
- RSPH4A 0
- RSPH9 1
- RTEL1 1
- RTN4IP1 1
- RTTN 1
- RYR1 3
- SACS 2
- SAMHD1 0
- SAR1B 1
- SARS2 1
- SBDS 1
- SBF2 2
- SC5D 1
- SCARB2 1
- SCARF2 1
- SCN9A 0
- SCNN1A 0
- SCNN1B 0
- SCO2 1
- SCYL1 1
- SDCCAG8 1
- SDHAF1 1
- SEC23B 0
- SELENON 0
- SEPSECS 0
- SERAC1 1
- SERPINF1 1
- SERPINH1 1
- SETX 1
- SFTPB 1
- SGCA 1
- SGCB 1
- SGCD 1
- SGCG 1
- SGPL1 1
- SGSH 1
- SH2D1A 1
- SH3PXD2B 1
- SH3TC2 1
- SIL1 1
- SKIV2L 0
- SLC12A1 1
- SLC12A5 0
- SLC12A6 1
- SLC13A5 1
- SLC16A1 1
- SLC16A2 1
- SLC17A5 1
- SLC19A2 1
- SLC19A3 1
- SLC1A4 0
- SLC22A5 1
- SLC24A5 1
- SLC25A1 1
- SLC25A13 1
- SLC25A15 1
- SLC25A19 1
- SLC25A22 1
- SLC25A38 1
- SLC25A46 1
- SLC26A2 2
- SLC26A3 1
- SLC29A3 1
- SLC2A10 1
- SLC2A2 1
- SLC30A10 0
- SLC33A1 1
- SLC35A3 1
- SLC35D1 1
- SLC37A4 0
- SLC38A8 1
- SLC39A14 1
- SLC39A4 0
- SLC39A8 0
- SLC45A2 2
- SLC46A1 1
- SLC4A1 0
- SLC4A4 1
- SLC52A2 0
- SLC52A3 0
- SLC5A7 1
- SLC6A3 1
- SLC6A5 1
- SLC6A8 0
- SLC7A7 0
- SLC9A3 2
- SLC9A6 1
- SMARCAL1 0
- SMN1 2
- SMPD1 0
- SMS 1
- SNAP29 1
- SNX14 1
- SOST 1
- SP110 0
- SPAG1 1
- SPART 2
- SPATA5 0
- SPATA7 1
- SPEG 1
- SPG11 2
- SPINK5 1
- SPINT2 0
- SPR 0
- SQSTM1 1
- SRD5A3 0
- SSR4 1
- ST3GAL5 0
- STAMBP 1
- STAR 1
- STAT1 1
- STIL 1
- STIM1 0
- STRA6 0
- STRADA 1
- STUB1 2
- STX11 1
- STXBP2 1
- SUCLA2 1
- SUCLG1 1
- SUMF1 1
- SUOX 1
- SURF1 3
- SYN1 2
- SYP 2
- TALDO1 1
- TANGO2 1
- TAP1 1
- TAT 3
- TAZ 1
- TBC1D23 0
- TBC1D24 1
- TBCD 1
- TBCE 1
- TBCK 1
- TBX19 0
- TCAP 1
- TCIRG1 0
- TCN2 1
- TCTN2 1
- TCTN3 1
- TDRD7 1
- TECPR2 2
- TELO2 1
- TF 1
- TGM1 1
- TH 1
- THOC2 1
- TIMM8A 1
- TJP2 0
- TK2 1
- TMCO1 1
- TMEM107 1
- TMEM126A 1
- TMEM138 1
- TMEM165 0
- TMEM216 1
- TMEM231 0
- TMEM237 0
- TMEM5 0
- TMEM67 1
- TMEM70 1
- TMTC3 1
- TNFRSF11A 1
- TNFRSF11B 1
- TNFSF11 1
- TNNT1 0
- TOE1 0
- TPI1 1
- TPK1 1
- TPM3 1
- TPP1 0
- TRAPPC11 0
- TRAPPC9 1
- TRDN 1
- TREX1 1
- TRIM32 0
- TRIM37 1
- TRIP11 1
- TRIT1 0
- TRMT10A 0
- TRMU 1
- TRNT1 1
- TRPM6 0
- TSEN2 1
- TSEN54 1
- TSFM 1
- TSHB 1
- TTC19 1
- TTC21B 1
- TTC37 1
- TTC7A 1
- TTC8 1
- TTI2 0
- TTPA 0
- TUBGCP4 1
- TUBGCP6 1
- TUFM 2
- TULP1 1
- TUSC3 1
- TWNK 1
- TXNL4A 1
- TYK2 1
- TYMP 0
- TYR 1
- TYRP1 1
- UBA1 2
- UBA5 1
- UBE2A 1
- UBE2T 1
- UBE3B 0
- UBR1 1
- UFM1 0
- UGT1A1 1
- UMPS 1
- UNC13D 1
- UNC80 0
- UPF3B 1
- UROS 1
- USB1 1
- USH1C 1
- USH1G 0
- USH2A 0
- USP9X 2
- VARS 0
- VARS2 1
- VIPAS39 0
- VKORC1 1
- VLDLR 1
- VMA21 1
- VPS11 3
- VPS13B 0
- VPS33B 0
- VPS45 1
- VPS53 1
- VRK1 1
- VSX2 1
- WARS2 1
- WAS 2
- WDR19 1
- WDR34 1
- WDR35 0
- WDR45B 1
- WDR60 1
- WDR62 1
- WDR73 0
- WDR81 1
- WFS1 1
- WHRN 1
- WISP3 0
- WNK1 1
- WNT1 1
- WNT10B 0
- WNT7A 1
- WRAP53 0
- WRN 2
- WWOX 1
- XIAP 1
- XPA 1
- XPC 0
- XRCC4 0
- XYLT1 1
- XYLT2 0
- YARS2 1
- ZAP70 1
- ZBTB24 1
- ZC4H2 1
- ZDHHC9 1
- ZFYVE26 1
- ZIC3 1
- ZMPSTE24 1
- ZMYND10 1
- ZNF335 0
- ZNF711 1
- ZNHIT3 1
- ADPRHL2 2
- AFF2 2
- AIRE 2
- B9D1 1
- BTD 3
- CERKL 3
- CNGA3 3
- DYNC1I2 2
- ERBB3 2
- F5 3
- GBA 1
- IGHM 2
- IKBKG 2
- MBTPS1 2
- MOGS 2
- NCF1 1
- NTNG2 2
- PIP5K1C 2
- POLA1 1
- RPGR 1
- SHOX 1
- TMEM94 1
- TTN 1
- VWF 1
- XPNPEP3 0
- ABCA4 1
- ABCC6 1
- ACSF3 1
- ACY1 1
- ALG2 3
- BCAP31 2
- C6 2
- C7 2
- C8B 3
- CARD9 2
- CBS 1
- CD81 1
- CHM 3
- CIB2 1
- COG5 2
- COL2A1 2
- CSMD1 1
- CYP21A2 2
- DSTYK 2
- EMG1 2
- EYS 3
- F11 2
- F8 1
- F9 2
- FAM161A 1
- FITM2 0
- FTCD 3
- G6PD 2
- GALK1 2
- GJB2 2
- GK 2
- GP1BA 2
- GP9 2
- GRHPR 3
- GTPBP2 1
- GYS2 2
- HBA1 3
- HBA2 3
- HFE 1
- HGD 1
- HOGA1 2
- HYAL1 2
- IGFBP7 2
- IMPG2 1
- ISCA1 1
- ITGA3 2
- KCNE1 3
- KRT8 1
- KRT85 3
- LDHB 2
- LOXHD1 2
- MCCC1 3
- MCCC2 1
- MCM4 2
- MEFV 2
- MFRP 1
- NDUFA11 2
- NLGN4X 2
- NR2E3 2
- NUP62 3
- OAT 2
- OCA2 2
- OPN1LW 0
- PDE6B 0
- PKD1L1 1
- PTPN23 0
- PUS7 0
- PYGM 2
- RS1 2
- SAMD9 1
- SEC23A 2
- SEMA4A 3
- SERPINA1 1
- SGO1 2
- SLC12A3 2
- SLC26A4 2
- SLC4A11 3
- SNORD118 2
- TBC1D20 0
- TBX22 2
- TFR2 2
- TNFRSF13B 1
- TP53RK 1
- TPRKB 1
- TRAC 3
- TRAPPC12 0
- TRAPPC6B 1
- TSPAN7 2
- TSPYL1 2
- TUBA8 1
- UPB1 1
- UQCRC2 1
- UQCRQ 1
- VPS13A 2
- VPS37A 1
- WNT10A 2
- YIF1B 2
- ZNF469 0
- AMN 1
- BRIP1 1
- DBR1 0
- HPDL 0
- OTULIN 0
- OXCT1 0
- PIEZO1 1
- SCN1B 1
STRs in panel
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Prepair 1000+
Gene: MRAP Green List (high evidence)
MRAP (melanocortin 2 receptor accessory protein)
EnsemblGeneIds (GRCh38): ENSG00000170262
EnsemblGeneIds (GRCh37): ENSG00000170262
OMIM: 609196, Gene2Phenotype
MRAP is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000170262
EnsemblGeneIds (GRCh37): ENSG00000170262
OMIM: 609196, Gene2Phenotype
MRAP is in 5 panels
1 review
Kate Scarff (Victorian Clinical Genetics Services)
Green List (high evidence)
Familial glucocorticoid deficiency 2results from resistance to the action of ACTH on the adrenal cortex, which stimulates glucocorticoid production. Affected individuals are deficient in cortisol and, if untreated, are likely to succumb to hypoglycemia or overwhelming infection in infancy or childhood. >20 unrelated families described.Created: 27 Dec 2024, 2:24 a.m. | Last Modified: 27 Dec 2024, 2:24 a.m.
Panel Version: 1.892
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glucocorticoid deficiency 2, MIM #607398
Publications
Created: 27 Dec 2024, 2:24 a.m.
Last Modified: 27 Dec 2024, 2:24 a.m.
Panel version: 1.892
Last Modified: 27 Dec 2024, 2:24 a.m.
Panel version: 1.892
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Mackenzie's Mission
- Phenotypes
-
- Glucocorticoid deficiency 2, MIM #607398
- OMIM
- 609196
- Clinvar variants
- Variants in MRAP
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
27 Dec 2024, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mrap has been classified as Green List (High Evidence).
27 Dec 2024, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MRAP were changed from Glucocorticoid deficiency 2, 607398 (3) to Glucocorticoid deficiency 2, MIM #607398
27 Dec 2024, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MRAP were set to
1 Jun 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MRAP was added gene: MRAP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MRAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRAP were set to Glucocorticoid deficiency 2, 607398 (3)