- Panels
- Prepair 1000+
- SH2D1A
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: SH2D1A Green List (high evidence)
SH2D1A (SH2 domain containing 1A)
EnsemblGeneIds (GRCh38): ENSG00000183918
EnsemblGeneIds (GRCh37): ENSG00000183918
OMIM: 300490, Gene2Phenotype
SH2D1A is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000183918
EnsemblGeneIds (GRCh37): ENSG00000183918
OMIM: 300490, Gene2Phenotype
SH2D1A is in 12 panels
1 review
Andrew Coventry (Victorian Clinical Genetics Services)
Green List (high evidence)
Well established gene-disease relationship. A primary immunodeficiency characterised by severe immune dysregulation often after viral infection, typically with Epstein-Barr virus (EBV). It is a complex phenotype manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis (HLH), and/or malignant lymphoma. Variable severity in early childhood, death generally by 10 years of age following infection. Other features may include aplastic anaemia, red cell aplasia, and lymphomatoid granulomatosis. Liver dysfunction, hepatic necrosis and liver failure reported.Created: 9 Dec 2024, 1:36 a.m. | Last Modified: 9 Dec 2024, 1:36 a.m.
Panel Version: 1.633
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Lymphoproliferative syndrome, X-linked, 1 MIM#308240
Publications
Created: 9 Dec 2024, 1:36 a.m.
Last Modified: 9 Dec 2024, 1:36 a.m.
Panel version: 1.633
Last Modified: 9 Dec 2024, 1:36 a.m.
Panel version: 1.633
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Mackenzie's Mission
- Phenotypes
-
- Lymphoproliferative syndrome, X-linked, 1, 308240 (3)
- OMIM
- 300490
- Clinvar variants
- Variants in SH2D1A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Disorders of immune dysregulation
- Predominantly Antibody Deficiency
- Mackenzie's Mission_Reproductive Carrier Screening
- Additional findings_Paediatric
- Prepair 1000+
- Liver Failure_Paediatric
- Mendeliome
- Inflammatory bowel disease
- BabyScreen+ newborn screening
- Vasculitis
- Cataract
- Susceptibility to Viral Infections
History Filter Activity
12 Dec 2024, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sh2d1a has been classified as Green List (High Evidence).
12 Dec 2024, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SH2D1A 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: SH2D1A was added gene: SH2D1A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SH2D1A were set to Lymphoproliferative syndrome, X-linked, 1, 308240 (3)