クリニカルエクソーム検査

(更新日：2023/11/26)

1 クリニカルエクソーム検査

クリニカルエクソーム検査

クリニカル・エクソーム・シーケンスは、何千もの遺伝子のコード領域とスプライスジャンクションを調べ、患者にとって臨床的に妥当な関連性のあるバリアントのみを報告するよう設計された、患者中心の表現型主導型解析です。すべてのClinical Exomeのオーダーには家族歴と臨床情報が必要です。

提供された臨床情報と一致しない偶発的所見や二次的所見は、日常的には報告されません。偶発的所見を含めることを希望する場合は、署名入りのInformed Consent for Genetic Testingフォームを提出する。ACMGが推奨する59の遺伝子において同定された病原性または病原性の可能性が高い変異体のみが、付随所見として報告されます。この解析は次世代シーケンシング（NGS）により行われ、臨床的意義が濃厚な核内コード遺伝子のコード領域およびスプライシングジャンクションを調べるように設計されている。提供された臨床情報と一致しない遺伝子に生じた変異は、日常的には報告されない。症例の特異性により、この解析は選択された遺伝子のプロモーター領域または他の非コード領域のサンガー配列決定を含む場合と含まない場合がある。同様に、この解析には、リピートプライム PCR（rpPCR）及びアンプリコン長解析による、限定された遺伝子のリピート拡張の検査が含まれる場合と含まれない場合がある。この解析にはメチル化研究やミトコンドリアコード遺伝子の評価は含まれない。すべての Clinical Exome オーダーには、表現型的に重要な遺伝子の Del/Dup 解析が含まれる。Del/Dup解析は、2つ以上の連続したエクソンの欠失または重複を同定するように設計されている。シングルエクソンの欠失または重複は、このアッセイでは日常的に検出されないが、時折同定されることがある。欠失および重複はエクソンレベルで報告される。ブレークポイントの位置は解析されません。シークエンシングにより診断または診断の可能性が特定された場合、Del/Dup解析は実施されない。

*常染色体優性遺伝、X連鎖優性遺伝、またはX連鎖劣性遺伝（遺伝学的に男性サンプルにおいて）を有する遺伝子において、単一ヘテロ接合性の病原性または病原性の可能性が高いバリアントが同定された場合、結果は診断の可能性が高いとみなされる。常染色体劣性遺伝またはX連鎖劣性遺伝の遺伝子において、2つの病原性または病原性の可能性が高い変異体（単一変異体に対するホモ接合または2つの変異体に対する複合ヘテロ接合を含む）が同定された場合も、診断的／可能性が高いとみなされます。

クリニカルエクソーム検査対象遺伝子

A2M, A2ML1, A4GALT, A4GNT, AAAS, AADAC, AADACL2, AAGAB, AANAT, AARS, AARS2, AASS, ABAT, ABCA1, ABCA12, ABCA13, ABCA2, ABCA3, ABCA4, ABCB1, ABCB11, ABCB4, ABCB6, ABCB7, ABCB8, ABCC1, ABCC11, ABCC2, ABCC3, ABCC4, ABCC6, ABCC8, ABCC9, ABCD1, ABCD3, ABCD4, ABCG2, ABCG5, ABCG8, ABHD12, ABHD5, ABI3BP, ABL1, ABL2, ACACA, ACACB, ACAD10, ACAD11, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAN, ACAT1, ACAT2, ACBD5, ACBD6, ACCS, ACE, ACHE, ACKR1, ACLY, ACO2, ACOX1, ACP1, ACP2, ACP5, ACSF3, ACSL4, ACSL5, ACSL6, ACSM3, ACTA1, ACTA2, ACTB, ACTC1, ACTG1, ACTN1, ACTN2, ACTN4, ACVR1, ACVR1B, ACVR1C, ACVR2A, ACVR2B, ACVRL1, ACY1, ADA, ADA2, ADAM10, ADAM12, ADAM17, ADAM19, ADAM22, ADAM23, ADAM33, ADAM7, ADAM9, ADAMTS1, ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS18, ADAMTS2, ADAMTSL2, ADAMTSL3, ADAMTSL4, ADAR, ADARB1, ADCY1, ADCY10, ADCY3, ADCY5, ADCY6, ADCY9, ADD1, ADD2, ADGRG1, ADGRV1, ADH4, ADH7, ADIPOQ, ADIPOR1, ADK, ADM, ADORA2A, ADRA2A, ADRA2B, ADRA2C, ADRB1, ADRB2, ADRB3, ADSL, ADTRP, AFF2, AFF3, AFG3L2, AFP, AGA, AGGF1, AGK, AGL, AGMO, AGO1, AGPAT2, AGPS, AGRN, AGRP, AGT, AGTPBP1, AGTR1, AGTR2, AGXT, AGXT2, AHCY, AHI1, AHR, AHSG, AHSP, AICDA, AIFM1, AIMP1, AIP, AIPL1, AIRE, AK1, AK2, AK3, AK7, AK8, AKAP10, AKAP2, AKAP9, AKR1C2, AKR1C3, AKR1C4, AKR1D1, AKR7A2, AKT1, AKT2, AKT3, ALAD, ALAS2, ALB, ALDH16A1, ALDH18A1, ALDH1A1, ALDH1A2, ALDH1A3, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG1L2, ALG2, ALG3, ALG5, ALG6, ALG8, ALG9, ALK, ALMS1, ALOX12, ALOX12B, ALOX5, ALOX5AP, ALOXE3, ALPL, ALS2, ALS2CL, ALX1, ALX3, ALX4, AMACR, AMBN, AMELX, AMELY, AMER1, AMH, AMHR2, AMMECR1, AMN, AMPD1, AMPD2, AMPD3, AMT, ANG, ANGPTL3, ANGPTL4, ANGPTL5, ANGPTL6, ANGPTL7, ANK1, ANK2, ANK3, ANKH, ANKK1, ANKLE2, ANKRD1, ANKRD11, ANKRD26, ANKS1A, ANKS6, ANO10, ANO3, ANO5, ANO6, ANO7, ANOS1, ANTXR2, ANXA5, AP1S1, AP1S2, AP1S3, AP2S1, AP3B1, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APAF1, APBA2, APBB2, APC, APCDD1, APEX1, APOA1, APOA2, APOA4, APOA5, APOB, APOBEC1, APOBEC3H, APOC2, APOC3, APOC4, APOD, APOE, APOH, APOL1, APOL3, APOPT1, APP, APRT, APTX, AQP2, AQP3, AQP4, AQP5, AR, ARFGEF2, ARG1, ARHGAP24, ARHGAP26, ARHGAP31, ARHGAP45, ARHGAP6, ARHGAP9, ARHGEF10, ARHGEF12, ARHGEF15, ARHGEF6, ARHGEF7, ARHGEF9, ARID1A, ARID1B, ARID4A, ARID4B, ARL13B, ARL2BP, ARL3, ARL6, ARMC4, ARMC5, ARMS2, ARSA, ARSB, ARSE, ART4, ARX, AS3MT, ASAH1, ASB10, ASCC1, ASCC3, ASCL1, ASIC3, ASIP, ASL, ASMT, ASNS, ASPA, ASPM, ASPN, ASPRV1, ASS1, ASXL1, ATAD3A, ATAD3B, ATAD3C, ATCAY, ATF3, ATF6, ATG16L1, ATG7, ATIC, ATL1, ATM, ATN1, ATOH7, ATP10A, ATP10D, ATP13A2, ATP13A4, ATP1A2, ATP1A3, ATP1B1, ATP2A1, ATP2A2, ATP2A3, ATP2B2, ATP2B3, ATP2B4, ATP2C1, ATP5F1A, ATP5F1B, ATP5F1E, ATP5MF-PTCD1, ATP6AP2, ATP6V0A2, ATP6V0A4, ATP6V1B1, ATP6V1E1, ATP7A, ATP7B, ATP8A2, ATP8B1, ATPAF2, ATR, ATRIP, ATRNL1, ATRX, ATXN1, ATXN10, ATXN2, ATXN3, ATXN3L, ATXN7, AUH, AURKC, AUTS2, AVP, AVPR1A, AVPR2, AXIN1, AXIN2, AXL, AZIN2, B2M, B3GALNT1, B3GALNT2, B3GALT1, B3GALT2, B3GALT5, B3GALT6, B3GAT1, B3GAT2, B3GAT3, B3GLCT, B3GNT2, B3GNT3, B3GNT4, B3GNT5, B3GNT6, B3GNT7, B3GNT8, B4GALNT1, B4GALNT2, B4GALNT3, B4GALNT4, B4GALT1, B4GALT2, B4GALT3, B4GALT4, B4GALT5, B4GALT6, B4GALT7, B4GAT1, B9D1, B9D2, BAAT, BAG3, BANK1, BAP1, BARD1, BARX2, BAX, BAZ1B, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAM, BCAT1, BCAT2, BCHE, BCKDHA, BCKDHB, BCKDK, BCL10, BCL11A, BCL2, BCL2L1, BCL2L2-PABPN1, BCL6, BCL9, BCO1, BCOR, BCORL1, BCS1L, BDNF, BDP1, BEAN1, BEST1, BFSP1, BFSP2, BGN, BHLHA9, BHLHE41, BICC1, BICD2, BIN1, BLK, BLM, BLMH, BLNK, BLOC1S3, BLOC1S5, BLOC1S6, BLVRA, BMI1, BMP1, BMP15, BMP2, BMP4, BMP5, BMP7, BMPER, BMPR1A, BMPR1B, BMPR2, BNC2, BOC, BOLA3, BPGM, BRAF, BRAT1, BRCA1, BRCA2, BRD1, BRD2, BRIP1, BRSK2, BRWD1, BRWD3, BSCL2, BSG, BSND, BTBD9, BTD, BTK, BUB1, BUB1B, C10orf105, C10orf55, C12orf57, C12orf65, C15orf41, C15orf62, C16orf58, C19orf12, C1GALT1, C1GALT1C1, C1QA, C1QB, C1QC, C1QTNF5, C1R, C1S, C21orf91, C2orf42, C2orf71, C3, C3AR1, C5, C5AR2, C6, C7, C8A, C8B, C8orf37, C9, C9orf72, CA1, CA12, CA2, CA4, CA5A, CA8, CABIN1, CABP2, CABP4, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1S, CACNA2D1, CACNA2D2, CACNA2D3, CACNA2D4, CACNB2, CACNB4, CACNG2, CACNG3, CACNG4, CAD, CADPS2, CALCA, CALCR, CALCRL, CALHM1, CALM1, CALM2, CALM3, CALR, CALR3, CAMK4, CAMKMT, CAMSAP2, CAMTA1, CANT1, CAPN10, CAPN3, CARD11, CARD14, CARD9, CARS2, CARTPT, CASK, CASP10, CASP12, CASP14, CASP2, CASP8, CASQ2, CASR, CAT, CATSPER1, CATSPER2, CATSPER3, CATSPER4, CAV1, CAV3, CAVIN1, CAVIN4, CBFB, CBL, CBLB, CBR1, CBR3, CBS, CBSL, CBX2, CBX4, CC2D1A, CC2D2A, CCBE1, CCDC103, CCDC107, CCDC114, CCDC14, CCDC141, CCDC151, CCDC22, CCDC28B, CCDC39, CCDC40, CCDC50, CCDC65, CCDC66, CCDC78, CCDC8, CCDC88C, CCKAR, CCKBR, CCL11, CCL2, CCM2, CCND1, CCND2, CCNO, CCR2, CCR3, CCR5, CCR7, CCT7, CD109, CD151, CD19, CD200, CD207, CD209, CD244, CD247, CD27, CD2AP, CD320, CD36, CD38, CD3D, CD3E, CD3G, CD4, CD40, CD40LG, CD44, CD5, CD59, CD74, CD79A, CD79B, CD80, CD81, CD86, CD8A, CD96, CDA, CDAN1, CDC42, CDC42BPB, CDC45, CDC6, CDC73, CDCA7, CDH1, CDH13, CDH15, CDH23, CDH3, CDH5, CDHR1, CDK16, CDK4, CDK5R1, CDK5RAP2, CDK6, CDKAL1, CDKL3, CDKL5, CDKN1B, CDKN1C, CDKN2A, CDKN2B, CDKN2C, CDON, CDT1, CDX2, CEACAM16, CEBPA, CEBPE, CECR2, CEL, CELSR1, CELSR2, CEMIP, CENPE, CENPF, CENPJ, CEP104, CEP135, CEP152, CEP164, CEP290, CEP41, CEP57, CEP63, CEP85L, CERKL, CERS3, CERS6, CES2, CETP, CFAP298, CFAP53, CFAP57, CFD, CFH, CFHR5, CFI, CFL2, CFP, CFTR, CHAT, CHCHD10, CHD1L, CHD2, CHD3, CHD6, CHD7, CHD8, CHDH, CHEK2, CHGA, CHI3L1, CHIC2, CHIT1, CHKB, CHKB-CPT1B, CHL1, CHM, CHMP1A, CHMP2B, CHMP4B, CHN1, CHPF, CHPF2, CHRD, CHRDL1, CHRM1, CHRM2, CHRM3, CHRNA1, CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA9, CHRNB1, CHRNB2, CHRNB4, CHRND, CHRNE, CHRNG, CHST14, CHST3, CHST5, CHST6, CHST7, CHST8, CHSY1, CHSY3, CHUK, CIB2, CIDEC, CIITA, CILP, CISD2, CISH, CITED2, CIZ1, CKAP2L, CKM, CKMT2, CLCF1, CLCN1, CLCN2, CLCN3, CLCN4, CLCN5, CLCN6, CLCN7, CLCNKA, CLCNKB, CLDN1, CLDN14, CLDN16, CLDN19, CLEC3B, CLEC7A, CLIC2, CLIC5, CLIP2, CLMP, CLN3, CLN5, CLN6, CLN8, CLOCK, CLP1, CLPP, CLPTM1, CLRN1, CLTCL1, CLU, CLYBL, CMPK1, CNBP, CNGA1, CNGA3, CNGB1, CNGB3, CNKSR1, CNKSR2, CNNM1, CNNM2, CNNM4, CNOT4, CNR1, CNR2, CNTF, CNTN1, CNTN2, CNTN4, CNTNAP2, CNTNAP4, CNTNAP5, COA5, COASY, COCH, COG1, COG2, COG3, COG4, COG5, COG6, COG7, COG8, COL10A1, COL11A1, COL11A2, COL12A1, COL13A1, COL17A1, COL18A1, COL1A1, COL1A2, COL27A1, COL2A1, COL3A1, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL7A1, COL8A2, COL9A1, COL9A2, COL9A3, COLEC11, COLQ, COMMD1, COMP, COMT, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ9, CORIN, CORO1A, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX6A1, COX6B1, COX7A1, COX7A2, COX7B, COX8A, CP, CPA6, CPB2, CPE, CPLANE1, CPN1, CPOX, CPS1, CPT1A, CPT1B, CPT2, CPZ, CR2, CRADD, CRB1, CRBN, CREB1, CREB3L3, CREBBP, CRELD1, CRH, CRIPT, CRISP2, CRKL, CRLF1, CRP, CRTAP, CRX, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGA, CRYGB, CRYGC, CRYGD, CRYGS, CRYL1, CRYM, CSDE1, CSF1, CSF1R, CSF2, CSF2RA, CSF2RB, CSF3R, CSGALNACT1, CSMD1, CSMD3, CSNK1D, CSNK2A2, CSRP3, CST3, CST6, CSTA, CSTB, CSTF2T, CTC1, CTDP1, CTF1, CTGF, CTH, CTHRC1, CTLA4, CTNNA3, CTNNB1, CTNND2, CTNS, CTRC, CTSA, CTSC, CTSD, CTSF, CTSG, CTSK, CTTNBP2, CUBN, CUL2, CUL3, CUL4B, CUL5, CUL7, CWC27, CWF19L1, CX3CR1, CXCL12, CXCL5, CXCR1, CXCR4, CYB5A, CYB5R3, CYB5R4, CYBA, CYBB, CYBRD1, CYC1, CYCS, CYFIP1, CYLD, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP1A2, CYP1B1, CYP21A1P, CYP21A2, CYP24A1, CYP26B1, CYP26C1, CYP27A1, CYP27B1, CYP2C18, CYP2C19, CYP2C8, CYP2C9, CYP2E1, CYP2J2, CYP2R1, CYP2U1, CYP3A5, CYP4F22, CYP4V2, CYP7A1, CYP7B1, CYR61, D2HGDH, DAD1, DAG1, DAO, DARS, DARS2, DAZL, DBH, DBT, DCAF17, DCC, DCDC2, DCK, DCLRE1C, DCN, DCTD, DCTN1, DCX, DCXR, DDAH1, DDB2, DDC, DDHD1, DDHD2, DDOST, DDR2, DDX11, DDX25, DDX3X, DDX58, DEAF1, DECR1, DEFB126, DEPDC5, DES, DGCR2, DGKD, DGKE, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHFR2, DHH, DHODH, DHTKD1, DHX37, DHX38, DIABLO, DIAPH1, DIAPH2, DIAPH3, DICER1, DIP2A, DIP2B, DIP2C, DIRC2, DIS3L2, DISC1, DISP1, DKC1, DKK3, DLAT, DLC1, DLD, DLEC1, DLG3, DLG4, DLGAP2, DLL1, DLL3, DLX3, DLX5, DLX6, DMAC2, DMC1, DMD, DMGDH, DMP1, DMPK, DMRT1, DMXL1, DNA2, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJB13, DNAJB2, DNAJB6, DNAJC19, DNAJC30, DNAJC5, DNAJC6, DNAL1, DNASE1, DNASE1L3, DNASE2, DNM1, DNM1L, DNM2, DNMT1, DNMT3A, DNMT3B, DNMT3L, DOC2A, DOCK3, DOCK4, DOCK6, DOCK7, DOCK8, DOCK9, DOK1, DOK2, DOK7, DOLK, DOLPP1, DOT1L, DPAGT1, DPM1, DPM2, DPM3, DPP10, DPP6, DPY19L2, DPYD, DPYS, DRAM2, DRC1, DRD1, DRD2, DRD3, DRD4, DRD5, DSC2, DSC3, DSCAM, DSE, DSG1, DSG2, DSG3, DSG4, DSP, DSPP, DST, DTNA, DTNBP1, DUOX2, DUOXA2, DVL1, DVL2, DVL3, DYM, DYNAP, DYNC1H1, DYNC2H1, DYRK1A, DYSF, E2F1, E2F4, E2F5, EARS2, EBAG9, EBP, ECE1, ECE2, ECEL1, ECHS1, ECI1, ECM1, ECM2, ECSIT, EDA, EDA2R, EDAR, EDARADD, EDN1, EDN3, EDNRA, EDNRB, EDRF1, EEF1A2, EEF2, EFCAB5, EFEMP1, EFEMP2, EFHC1, EFHC2, EFNA5, EFNB1, EFR3A, EFTUD2, EGF, EGFR, EGLN1, EGR2, EHBP1, EHD2, EHHADH, EHMT1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF4G1, ELAC2, ELANE, ELF4, ELK1, ELK3, ELMOD2, ELMOD3, ELN, ELOVL4, ELOVL5, ELP1, ELP2, EMC1, EMC4, EMD, EME1, EMG1, EMX1, EMX2, EN2, ENAM, ENG, ENO3, ENPP1, ENTPD1, EOMES, EP300, EPAS1, EPB41, EPB41L1, EPB42, EPC2, EPCAM, EPHA2, EPHA3, EPHA5, EPHA7, EPHB2, EPHB6, EPHX1, EPHX2, EPM2A, EPO, EPOR, EPS8, EPX, ERAP1, ERAP2, ERBB2, ERBB3, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERF, ERLIN2, ERMAP, ERMARD, ERRFI1, ESCO2, ESPN, ESPNP, ESR1, ESR2, ESRRB, ESS2, ETFA, ETFB, ETFDH, ETHE1, ETV4, ETV6, EVC, EVC2, EVI5, EWSR1, EXO1, EXO5, EXOC4, EXOSC3, EXOSC8, EXPH5, EXT1, EXT2, EXTL1, EXTL2, EXTL3, EYA1, EYA4, EYS, EZH2, F10, F11, F12, F13A1, F13B, F2, F2RL1, F5, F7, F8, F9, FA2H, FAAH, FAAH2, FABP1, FABP2, FADD, FAH, FAM111A, FAM126A, FAM161A, FAM205A, FAM20A, FAM20C, FAM47B, FAM47C, FAM83H, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FARS2, FAS, FASLG, FASN, FASTKD2, FAT4, FBH1, FBLN1, FBLN5, FBN1, FBN2, FBP1, FBXL4, FBXL6, FBXO10, FBXO11, FBXO38, FBXO7, FBXW4, FBXW7, FCER1G, FCN2, FCN3, FDFT1, FDPS, FECH, FEM1A, FEM1B, FERMT1, FERMT3, FEZF2, FFAR1, FFAR4, FGA, FGB, FGD1, FGD3, FGD4, FGF10, FGF14, FGF2, FGF23, FGF3, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FGFR4, FGFRL1, FGG, FH, FHIT, FHL1, FHL2, FIG4, FIGLA, FKBP10, FKBP14, FKBP5, FKBP8, FKRP, FKTN, FLCN, FLG, FLI1, FLNA, FLNB, FLNC, FLT1, FLT3, FLT4, FLVCR1, FLVCR2, FMN1, FMN2, FMO1, FMO2, FMO3, FMO4, FMO5, FMOD, FMR1, FN1, FN3K, FOLH1, FOLH1B, FOLR1, FOXA1, FOXA2, FOXA3, FOXC1, FOXC2, FOXD3, FOXE1, FOXE3, FOXF1, FOXF2, FOXG1, FOXH1, FOXI1, FOXJ1, FOXK1, FOXL2, FOXM1, FOXN1, FOXO1, FOXP1, FOXP2, FOXP3, FOXRED1, FPGS, FPR1, FRAS1, FREM1, FREM2, FREM3, FRK, FRMD7, FRMPD4, FRY, FRZB, FSCB, FSCN2, FSHB, FSHR, FST, FTCD, FTH1, FTHL17, FTL, FTO, FTSJ1, FUCA1, FUS, FUT1, FUT2, FUT3, FUT5, FUT6, FUT7, FUT8, FUZ, FXN, FXYD2, FYCO1, FZD3, FZD4, FZD6, FZD9, G6PC, G6PC2, G6PC3, G6PD, GAA, GABBR1, GABBR2, GABRA1, GABRA2, GABRA6, GABRB2, GABRB3, GABRD, GABRG1, GABRG2, GABRR2, GAD1, GAD2, GADD45A, GAK, GAL3ST1, GAL3ST2, GAL3ST3, GAL3ST4, GALC, GALE, GALK1, GALNS, GALNT11, GALNT12, GALNT13, GALNT14, GALNT17, GALNT2, GALNT3, GALNT5, GALNT6, GALNT7, GALNT8, GALNT9, GALNTL6, GALT, GAMT, GAN, GANAB, GAP43, GARS, GAS1, GAS2L2, GAS8, GATA1, GATA2, GATA3, GATA4, GATA5, GATA6, GATAD1, GATD3A, GATM, GBA, GBA2, GBE1, GBGT1, GC, GCDH, GCGR, GCH1, GCK, GCKR, GCLC, GCLM, GCM2, GCNT1, GCNT2, GCSH, GDAP1, GDF1, GDF2, GDF3, GDF5, GDF6, GDF9, GDI1, GDNF, GFAP, GFER, GFI1, GFI1B, GFM1, GFM2, GFPT1, GFRA1, GGCX, GGH, GHR, GHRH, GHRHR, GHRL, GHSR, GIF, GIGYF2, GIMAP8, GIP, GIPC3, GIPR, GIT1, GJA1, GJA3, GJA5, GJA8, GJB1, GJB2, GJB3, GJB4, GJB6, GJC2, GJC3, GK, GLA, GLB1, GLCCI1, GLDC, GLE1, GLI2, GLI3, GLIS2, GLIS3, GLMN, GLO1, GLP1R, GLRA1, GLRB, GLRX5, GLUD1, GLUD2, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNA11, GNA14, GNAI3, GNAL, GNAO1, GNAQ, GNAS, GNAT1, GNAT2, GNB1L, GNB3, GNB4, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNRH1, GNRHR, GNS, GOLGA3, GOLGA5, GOPC, GORAB, GOSR2, GOT1, GP1BA, GP1BB, GP6, GP9, GPAM, GPATCH8, GPBAR1, GPC3, GPC4, GPC6, GPD1, GPD1L, GPD2, GPHN, GPI, GPIHBP1, GPNMB, GPR1, GPR12, GPR132, GPR139, GPR143, GPR179, GPS1, GPSM2, GPT, GRB10, GREM1, GRHL1, GRHL2, GRHL3, GRHPR, GRIA3, GRID1, GRID2, GRIK1, GRIK2, GRIK4, GRIN1, GRIN2A, GRIN2B, GRIN3A, GRIP1, GRK1, GRK3, GRK4, GRM1, GRM6, GRM7, GRN, GRPR, GRXCR1, GRXCR2, GSC, GSDME, GSE1, GSN, GSPT2, GSR, GSS, GSTA3, GSTM3, GSTP1, GSTT1, GSTZ1, GTF2H5, GTPBP2, GTPBP3, GUCA1A, GUCA1B, GUCY2C, GUCY2D, GUCY2F, GUSB, GYG1, GYPC, GYS1, GYS2, H6PD, HABP2, HACE1, HADH, HADHA, HADHB, HAL, HAMP, HAND1, HAND2, HAPLN1, HARS, HARS2, HAX1, HBA1, HBA2, HBB, HBD, HBE1, HBM, HCCS, HCFC1, HCN1, HCN2, HCN3, HCN4, HCRT, HCRTR2, HDAC4, HDAC6, HDAC8, HDAC9, HDC, HDGFL2, HDLBP, HDX, HECW2, HELLS, HEPACAM, HEPH, HES7, HESX1, HEXA, HEXB, HEY1, HEY2, HFE, HGD, HGF, HGSNAT, HIBCH, HIF1A, HIGD2A, HINT1, HIP1, HIST1H2AE, HIST3H3, HIVEP2, HJV, HK1, HK2, HLCS, HLX, HMBS, HMCN1, HMGB3, HMGCL, HMGCR, HMGCS2, HMMR, HMOX1, HMX1, HMX2, HNF1A, HNF1B, HNF4A, HNMT, HNRNPH1, HNRNPH3, HNRNPU, HOGA1, HOMER2, HOXA1, HOXA10, HOXA11, HOXA13, HOXA2, HOXA3, HOXA4, HOXB1, HOXB13, HOXB6, HOXB8, HOXC13, HOXD10, HOXD13, HOXD4, HPCA, HPD, HPGD, HPRT1, HPS1, HPS3, HPS4, HPS5, HPS6, HPSE2, HR, HRAS, HRG, HSD11B1, HSD11B2, HSD17B10, HSD17B3, HSD17B4, HSD3B1, HSD3B2, HSD3B7, HSF1, HSF4, HSPA9, HSPB1, HSPB3, HSPB6, HSPB7, HSPB8, HSPD1, HSPE1, HSPG2, HTR1A, HTR1B, HTR2A, HTR2B, HTR2C, HTR3A, HTR3B, HTR3C, HTR3E, HTR7, HTRA1, HTRA2, HTT, HUWE1, HYAL1, HYDIN, HYI, HYLS1, IAPP, IARS2, IBA57, ICAM1, ICAM4, ICK, ICOS, ID3, ID4, IDH1, IDH2, IDH3B, IDO1, IDS, IDUA, IER3IP1, IFIH1, IFITM1, IFITM2, IFITM3, IFITM4P, IFITM5, IFNAR1, IFNAR2, IFNG, IFNGR1, IFNGR2, IFRD1, IFT122, IFT140, IFT172, IFT43, IFT80, IFT88, IGBP1, IGF1, IGF1R, IGF2, IGF2R, IGFALS, IGFBP7, IGHMBP2, IGLL1, IGLL3P, IGSF1, IHH, IKBIP, IKBKB, IKBKG, IKZF3, IL10, IL10RA, IL10RB, IL11RA, IL12B, IL12RB1, IL12RB2, IL13, IL17F, IL17RA, IL18RAP, IL1B, IL1R1, IL1RAPL1, IL1RN, IL20RB, IL21R, IL23R, IL2RA, IL2RG, IL3, IL31RA, IL36RN, IL4, IL4R, IL6, IL6R, IL6ST, IL7R, IL9R, ILDR1, ILK, IMMP2L, IMMT, IMPA1, IMPAD1, IMPDH1, IMPDH2, IMPG2, INAVA, INF2, ING1, INHA, INMT, INPP5B, INPP5E, INS, INSL6, INSR, INVS, IQCB1, IQGAP2, IQGAP3, IQSEC2, IRAK3, IRAK4, IRF1, IRF4, IRF5, IRF6, IRF8, IRS1, IRS2, IRS4, IRX4, IRX5, ISCU, ISL1, ISPD, ITCH, ITGA2, ITGA2B, ITGA3, ITGA6, ITGA7, ITGA9, ITGAM, ITGB2, ITGB3, ITGB4, ITGB6, ITIH4, ITIH6, ITK, ITM2B, ITPA, ITPKC, ITPR1, ITSN2, IVD, IYD, JAG1, JAG2, JAK2, JAK3, JAM3, JCAD, JMJD1C, JPH2, JPH3, JUN, JUNB, JUP, KAAG1, KALRN, KANK1, KANSL1, KARS, KAT2A, KAT6A, KAT6B, KATNAL2, KATNB1, KBTBD13, KCNA1, KCNA2, KCNA4, KCNA5, KCNA6, KCNAB1, KCNAB2, KCNB1, KCNC1, KCNC3, KCND2, KCND3, KCNE1, KCNE1B, KCNE2, KCNE3, KCNE4, KCNE5, KCNH2, KCNH3, KCNIP4, KCNJ1, KCNJ10, KCNJ11, KCNJ12, KCNJ13, KCNJ18, KCNJ2, KCNJ5, KCNJ6, KCNJ8, KCNK18, KCNK3, KCNK9, KCNMA1, KCNMB1, KCNMB4, KCNN2, KCNN3, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KCNQ5, KCNS1, KCNT1, KCNV1, KCNV2, KCTD1, KCTD13, KCTD17, KCTD7, KDM3A, KDM5A, KDM5C, KDM6A, KDM6B, KDR, KEL, KERA, KHDC3L, KHK, KIAA0100, KIAA0232, KIAA0319, KIF11, KIF14, KIF17, KIF1A, KIF1B, KIF1BP, KIF1C, KIF21A, KIF22, KIF2A, KIF5A, KIF5C, KIF7, KIRREL3, KISS1, KISS1R, KIT, KITLG, KIZ, KL, KLC1, KLF1, KLF10, KLF11, KLF6, KLF8, KLHDC8B, KLHL10, KLHL3, KLHL40, KLHL41, KLHL7, KLHL9, KLK1, KLK12, KLK4, KLKB1, KMT2D, KMT5B, KNG1, KNL1, KPNA1, KPNA7, KRAS, KRIT1, KRT1, KRT10, KRT12, KRT13, KRT14, KRT16, KRT17, KRT2, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT6C, KRT74, KRT75, KRT85, KRT9, KRTAP1-1, KRTAP1-3, KRTAP1-4, KRTAP1-5, KYNU, L1CAM, L2HGDH, L3MBTL1, LAMA1, LAMA2, LAMA3, LAMA4, LAMB1, LAMB2, LAMB3, LAMC2, LAMC3, LAMP2, LAMTOR2, LARGE1, LARGE2, LARS, LARS2, LAS1L, LBR, LCA5, LCAT, LCE2A, LCE3B, LCE3D, LCE3E, LCE5A, LCK, LCT, LDB1, LDB3, LDHA, LDHB, LDLR, LDLRAP1, LECT2, LEF1, LEFTY1, LEFTY2, LEMD3, LEP, LEPR, LETM1, LFNG, LGALS13, LGALS2, LGI1, LGI4, LGR5, LHB, LHCGR, LHFPL5, LHX1, LHX3, LHX4, LHX8, LIAS, LIF, LIFR, LIG1, LIG3, LIG4, LIM2, LIMK1, LINS1, LIPA, LIPC, LIPG, LIPH, LIPI, LIPN, LIPT1, LITAF, LLGL1, LMAN1, LMBR1, LMBRD1, LMF1, LMNA, LMNB1, LMNB2, LMO2, LMO4, LMOD3, LMTK3, LMX1B, LOR, LOX, LOXHD1, LOXL1, LPAR6, LPIN1, LPIN2, LPIN3, LPL, LPP, LRAT, LRBA, LRFN5, LRIT3, LRMDA, LRP1, LRP2, LRP4, LRP5, LRP5L, LRP6, LRP8, LRPPRC, LRRC4, LRRC6, LRRC8A, LRRFIP2, LRRK2, LRRTM1, LRSAM1, LRTOMT, LTBP1, LTBP2, LTBP3, LTBP4, LTBR, LTC4S, LTN1, LUM, LY96, LYN, LYST, LYZ, LZTFL1, LZTR1, LZTS1, MAB21L2, MACROD2, MAD1L1, MADD, MAF, MAFA, MAFB, MAGEE2, MAGEL2, MAGI2, MAGT1, MAK, MALT1, MAML2, MAMLD1, MAN1A2, MAN1B1, MAN2A1, MAN2B1, MANBA, MAOA, MAOB, MAP2, MAP2K1, MAP2K2, MAP2K3, MAP2K4, MAP2K7, MAP3K1, MAP3K14, MAP3K15, MAP3K8, MAP6, MAPK1, MAPK10, MAPT, MARS, MARS2, MARVELD2, MASP1, MASP2, MASTL, MAT1A, MATN3, MATR3, MAX, MBD1, MBD3, MBD4, MBD5, MBL2, MBNL1, MBOAT7, MBTPS2, MC1R, MC2R, MC3R, MC4R, MCC, MCCC1, MCCC2, MCEE, MCFD2, MCHR1, MCIDAS, MCM4, MCM5, MCM6, MCM9, MCOLN1, MCPH1, MDH2, MDK, MDM2, MDN1, ME2, MECOM, MECP2, MED12, MED13L, MED17, MED23, MED25, MEF2A, MEF2C, MEFV, MEGF10, MEGF11, MEGF8, MEIS1, MEN1, MERTK, MESD, MESP2, MET, MFAP4, MFAP5, MFF, MFGE8, MFN2, MFRP, MFSD2A, MFSD8, MGAT1, MGAT2, MGAT3, MGAT4A, MGAT4B, MGAT4C, MGAT5, MGAT5B, MGLL, MGME1, MGMT, MGP, MGST2, MGST3, MHRT, MIB1, MID1, MIF, MINPP1, MIP, MIPOL1, MIR1225, MIR1228, MIR1229, MIR1260B, MIR1292, MIR17HG, MIR3606, MIR3648-1, MIR3648-2, MIR3911, MIR4253, MIR4260, MIR4281, MIR4310, MIR4321, MIR4489, MIR4632, MIR4648, MIR4668, MIR4673, MIR4685, MIR4695, MIR4701, MIR4721, MIR4728, MIR4742, MIR4761, MIR5004, MIR6084, MIR6125, MIR631, MIR638, MIR639, MIR6505, MIR6511B1, MIR6511B2, MIR6515, MIR671, MIR6720, MIR6731, MIR6735, MIR6744, MIR6752, MIR6757, MIR6758, MIR6759, MIR6761, MIR6764, MIR6765, MIR6766, MIR6774, MIR6775, MIR6777, MIR6778, MIR6788, MIR6793, MIR6795, MIR6797, MIR6800, MIR6808, MIR6810, MIR6811, MIR6814, MIR6815, MIR6817, MIR6819, MIR6824, MIR6829, MIR6841, MIR6846, MIR6857, MIR6863, MIR6870, MIR6878, MIR6881, MIR6886, MIR6889, MIR6890, MIR6894, MIR6895, MIR7108, MIR711, MIR7113, MIR7114, MIR7846, MIR7855, MIR8077, MIR936, MIR937, MIR96, MITF, MKKS, MKL1, MKS1, MLC1, MLH1, MLH3, MLLT11, MLLT3, MLPH, MLXIPL, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MME, MMEL1, MMGT1, MMP1, MMP13, MMP14, MMP2, MMP20, MMP21, MMP3, MMP8, MMP9, MN1, MNX1, MOCOS, MOCS1, MOCS2, MOGS, MOK, MPC1, MPDU1, MPDZ, MPG, MPI, MPL, MPLKIP, MPO, MPP6, MPST, MPV17, MPZ, MR1, MRAP, MRE11, MREG, MRPL15, MRPL19, MRPL3, MRPL43, MRPL44, MRPL48, MRPL57, MRPS12, MRPS16, MRPS17, MRPS18A, MRPS22, MRRF, MS4A1, MS4A12, MS4A2, MSH2, MSH3, MSH6, MSMB, MSMO1, MSR1, MSRA, MSRB3, MST1R, MSTN, MSX1, MSX2, MTA2, MTAP, MTCH2, MTFMT, MTHFD1, MTHFD1L, MTHFR, MTHFS, MTM1, MTMR14, MTMR2, MTMR9, MTNR1A, MTNR1B, MTO1, MTOR, MTPAP, MTR, MTRR, MTSS1, MTTP, MUC5B, MUC7, MUS81, MUSK, MUT, MUTYH, MVK, MXI1, MYB, MYBPC1, MYBPC3, MYC, MYCN, MYD88, MYF5, MYF6, MYH11, MYH14, MYH2, MYH3, MYH6, MYH7, MYH8, MYH9, MYL2, MYL3, MYLK, MYLK2, MYO15A, MYO1A, MYO1C, MYO1E, MYO1F, MYO3A, MYO5A, MYO5B, MYO6, MYO7A, MYO7B, MYO9A, MYO9B, MYOC, MYOCD, MYOD1, MYOM1, MYOT, MYOZ2, MYPN, MYT1, MYT1L, NAA10, NADK2, NAGA, NAGLU, NAGPA, NAGS, NALCN, NAPRT, NARS2, NAT1, NAT2, NAT8L, NAV2, NAV2-AS2, NBAS, NBEA, NBEAL2, NBN, NCAPD2, NCF2, NCF4, NCKAP1, NCOA1, NCS1, NCSTN, NDE1, NDN, NDOR1, NDP, NDRG1, NDST1, NDST2, NDST3, NDST4, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA7, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB1, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NEB, NEBL, NECTIN1, NECTIN4, NEDD4, NEDD4L, NEFH, NEFL, NEFM, NEGR1, NEIL1, NEIL2, NEK1, NEK2, NEK8, NEU1, NEU2, NEUROD1, NEUROG3, NEXMIF, NEXN, NF1, NF2, NFATC2, NFATC3, NFATC4, NFE2L1, NFIA, NFIX, NFKB2, NFKBIA, NFKBIZ, NFU1, NGF, NGLY1, NHEJ1, NHLRC1, NHP2, NHS, NIN, NINJ1, NIPA1, NIPAL4, NIPBL, NIPSNAP1, NIPSNAP3A, NKAIN2, NKX2-1, NKX2-5, NKX2-6, NKX3-1, NKX3-2, NLGN1, NLGN2, NLGN3, NLGN4X, NLGN4Y, NLRC4, NLRP1, NLRP12, NLRP14, NLRP2, NLRP3, NLRP7, NLRX1, NME1, NME5, NME7, NME8, NMNAT1, NMT2, NNT, NOBOX, NOD1, NOD2, NODAL, NOG, NOL3, NONO, NOP10, NOS1, NOS1AP, NOS2, NOS3, NOTCH1, NOTCH2, NOTCH3, NPAS2, NPAS3, NPAT, NPC1, NPC1L1, NPC2, NPFFR2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NPL, NPM1, NPPA, NPPC, NPR2, NPSR1, NPY, NPY1R, NPY2R, NQO1, NR0B1, NR0B2, NR1H2, NR1H3, NR1H4, NR1I2, NR1I3, NR2E1, NR2E3, NR2F1, NR2F2, NR3C1, NR3C2, NR4A1, NR4A2, NR4A3, NR5A1, NRAS, NRCAM, NRG1, NRL, NRP2, NRTN, NRXN1, NRXN2, NSD1, NSD2, NSDHL, NSMF, NSUN2, NSUN7, NT5E, NTF3, NTF4, NTHL1, NTNG1, NTRK1, NTRK2, NTRK3, NUAK1, NUBPL, NUDT1, NUMA1, NUP155, NUP214, NUP62, NXNL1, NYX, OAS1, OAS2, OAT, OBSCN, OBSL1, OCA2, OCLN, OCRL, ODAPH, ODC1, OFD1, OGG1, OGT, OLFM2, OLIG2, OLR1, OMG, OPA1, OPA3, OPHN1, OPLAH, OPN1SW, OPRL1, OPRM1, OPTC, OPTN, OR10X1, OR13G1, OR1B1, OR51G1, OR52H1, OR52N4, OR5AC2, OR5H6, OR8K3, ORAI1, ORC1, ORC4, ORC6, OSBPL2, OSMR, OSTM1, OTC, OTOA, OTOF, OTOG, OTOGL, OTX2, OVCH2, OXCT1, P2RX1, P2RX2, P2RX5, P2RX7, P2RY12, P2RY4, P3H1, P3H2, P4HB, PABPC4L, PABPN1, PACRG, PACS1, PADI4, PAFAH1B1, PAFAH1B3, PAH, PAK3, PALB2, PALLD, PANK2, PAPSS2, PARD3B, PARK7, PARL, PARP1, PASK, PAX1, PAX2, PAX3, PAX4, PAX5, PAX6, PAX7, PAX8, PAX9, PBX1, PC, PCBD1, PCCA, PCCB, PCDH15, PCDH18, PCDH19, PCDH9, PCDHA10, PCDHA13, PCDHB4, PCK1, PCK2, PCLO, PCM1, PCMT1, PCNT, PCOLCE, PCSK1, PCSK5, PCSK9, PDCD1, PDCD10, PDE10A, PDE11A, PDE4B, PDE4D, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDE8B, PDGFB, PDGFRA, PDGFRB, PDGFRL, PDHA1, PDHB, PDHX, PDK1, PDK3, PDLIM3, PDLIM4, PDP1, PDSS1, PDSS2, PDX1, PDYN, PDZD7, PECR, PEPD, PER1, PER2, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PFN1, PGAM2, PGAM5, PGAP1, PGBD3, PGK1, PGM1, PGM3, PGR, PGRMC1, PHB, PHC1, PHEX, PHF11, PHF2, PHF3, PHF6, PHF8, PHGDH, PHIP, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PHLPP2, PHOX2A, PHOX2B, PHYH, PICALM, PICK1, PIEZO2, PIF1, PIGA, PIGL, PIGM, PIGN, PIGO, PIGR, PIGV, PIGZ, PIH1D3, PIK3AP1, PIK3CA, PIK3CD, PIK3R1, PIK3R2, PIK3R5, PIKFYVE, PIM1, PIN1, PINK1, PIP5K1B, PIP5K1C, PITPNA, PITPNM3, PITX1, PITX2, PITX3, PJVK, PKD1, PKD2, PKHD1, PKLR, PKM, PKN3, PKP1, PKP2, PLA2G2A, PLA2G4A, PLA2G5, PLA2G6, PLA2G7, PLAG1, PLAGL1, PLAT, PLAU, PLCB1, PLCB4, PLCD1, PLCE1, PLCG2, PLCZ1, PLD2, PLEC, PLEKHG2, PLEKHG4, PLEKHG5, PLG, PLIN1, PLK4, PLN, PLOD1, PLOD2, PLOD3, PLP1, PLP2, PLSCR3, PLTP, PML, PMM2, PMP22, PMS1, PMS2, PNKD, PNKP, PNLIP, PNMT, PNP, PNPLA1, PNPLA2, PNPLA6, PNPO, PNPT1, POC1A, POC1B, POF1B, POFUT2, POGZ, POLB, POLD1, POLE, POLE2, POLG, POLG2, POLH, POLL, POLR1C, POLR1D, POLR3A, POLR3B, POLRMT, POMC, POMGNT1, POMGNT2, POMK, POMP, POMT1, POMT2, PON1, PON2, PON3, POP1, POR, PORCN, POSTN, POT1, POU1F1, POU3F4, POU4F3, PPARA, PPARG, PPARGC1A, PPARGC1B, PPIB, PPM1B, PPM1D, PPM1G, PPM1K, PPOX, PPP1R15B, PPP1R17, PPP1R1A, PPP1R3A, PPP1R3C, PPP2R1B, PPP2R2B, PPP2R2C, PPP2R5D, PPP3CA, PPP3R1, PPT1, PPT2, PQBP1, PRB1, PRB2, PRB3, PRB4, PRCC, PRCD, PRCP, PRDM16, PRDM5, PRDX1, PREPL, PRF1, PRG4, PRICKLE1, PRICKLE2, PRKAG2, PRKAG3, PRKAR1A, PRKCA, PRKCD, PRKCG, PRKCH, PRKCSH, PRKDC, PRKG1, PRKN, PRKRA, PRLH, PRLR, PRM1, PRM2, PRMT3, PRMT7, PRMT9, PRND, PRNP, PROC, PROCR, PRODH, PROK1, PROK2, PROKR1, PROKR2, PROM1, PROP1, PROS1, PROX1, PROZ, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH, PRPH2, PRPS1, PRRT2, PRRX1, PRSS1, PRSS12, PRSS3P2, PRSS56, PRSS8, PRX, PSAP, PSEN1, PSEN2, PSENEN, PSMB8, PSMC3IP, PSPH, PSPN, PSTPIP1, PSTPIP2, PTAFR, PTCD1, PTCH1, PTCH2, PTCHD1, PTCHD3, PTEN, PTF1A, PTGDR, PTGER2, PTGER4, PTGIR, PTGIS, PTGS1, PTGS2, PTH1R, PTHLH, PTK7, PTPN1, PTPN11, PTPN12, PTPN14, PTPN22, PTPN6, PTPRC, PTPRJ, PTPRK, PTPRN2, PTPRO, PTPRQ, PTPRT, PTS, PURA, PUS1, PXDN, PYCR1, PYGL, PYGM, PYY, PZP, QARS, QDPR, QKI, RAB11FIP5, RAB18, RAB23, RAB25, RAB27A, RAB27B, RAB28, RAB29, RAB39B, RAB3GAP1, RAB3GAP2, RAB40A, RAB40AL, RAB7A, RABGGTA, RAC2, RAD21, RAD21L1, RAD50, RAD51, RAD51C, RAD51D, RAD54B, RAD54L, RAF1, RAG1, RAG2, RAI1, RALGDS, RANBP2, RANGAP1, RANGRF, RAP1GDS1, RAPSN, RARA, RARB, RARS, RARS2, RASA1, RASA2, RASGRP1, RASGRP2, RASSF5, RAX, RAX2, RB1, RB1CC1, RBBP8, RBCK1, RBFOX1, RBFOX3, RBL1, RBL2, RBM10, RBM15, RBM20, RBM28, RBM8A, RBMXL2, RBP3, RBP4, RC3H1, RCBTB1, RD3, RDH11, RDH12, RDH5, RDH8, RDX, RECQL4, REEP1, REL, RELN, REN, REPS2, RET, RETN, RETREG1, RFC2, RFT1, RFX2, RFX5, RFX6, RFX8, RFXANK, RFXAP, RGMA, RGR, RGS2, RGS7, RGS9, RGS9BP, RHAG, RHBDF2, RHO, RHOG, RHOH, RIC1, RIMS1, RIMS3, RIN2, RIPK4, RIPOR2, RIT1, RLBP1, RMC1, RMND1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNASEL, RNASET2, RNF113A, RNF135, RNF139, RNF168, RNF170, RNF212, RNF213, RNF6, ROBO1, ROBO2, ROBO3, ROCK1, ROGDI, ROM1, ROR2, RORA, ROS1, RP1, RP1L1, RP2, RP9, RPA1, RPA4, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPIA, RPL10, RPL11, RPL15, RPL26, RPL35A, RPL38, RPL5, RPN2, RPS10, RPS10P7, RPS14, RPS17, RPS19, RPS24, RPS26, RPS6KA3, RPS6KL1, RPS7, RPTOR, RRAS, RRH, RRM2B, RS1, RSC1A1, RSPH1, RSPH3, RSPH4A, RSPH9, RSPO1, RSPO4, RSRC1, RTEL1, RTN2, RTN4R, RTTN, RUBCN, RUNX1, RUNX2, RUNX3, RUVBL1, RXFP2, RXRA, RXYLT1, RYR1, RYR2, RYR3, SACS, SAG, SAGE1, SALL1, SALL2, SALL4, SAMD9, SAMHD1, SAR1B, SARDH, SARS2, SART3, SASS6, SAT1, SATB2, SATL1, SBDS, SBF1, SBF1P1, SBF2, SC5D, SCARB1, SCARB2, SCARF2, SCGB1A1, SCGB3A2, SCLT1, SCN10A, SCN11A, SCN1A, SCN1B, SCN2A, SCN2B, SCN3A, SCN3B, SCN4A, SCN4B, SCN5A, SCN7A, SCN8A, SCN9A, SCNN1A, SCNN1B, SCNN1G, SCO1, SCO2, SCP2, SCRIB, SCUBE2, SDC3, SDCCAG8, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SDR9C7, SEC23A, SEC23B, SEC24D, SEC63, SECISBP2, SELE, SELENON, SELL, SELP, SELPLG, SEMA3A, SEMA3E, SEMA4A, SEMA4C, SEMA4G, SEMA6D, SEMA7A, SEMG1, SEPSECS, SEPT12, SEPT9, SERAC1, SERPINA1, SERPINA10, SERPINA3, SERPINA6, SERPINA7, SERPINB11, SERPINB5, SERPINB6, SERPINC1, SERPIND1, SERPINE1, SERPINF1, SERPINF2, SERPING1, SERPINH1, SERPINI1, SERPINI2, SESN2, SETBP1, SETD2, SETX, SEZ6, SEZ6L2, SF3B1, SF3B4, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SGCA, SGCB, SGCD, SGCE, SGCG, SGO1, SGO1-AS1, SGSH, SH2B1, SH2B3, SH2D1A, SH3BP2, SH3GL1, SH3PXD2B, SH3TC2, SHANK2, SHANK3, SHARPIN, SHBG, SHH, SHMT1, SHMT2, SHOC2, SHOX, SHOX2, SHROOM3, SHROOM4, SI, SIAE, SIGLEC12, SIGMAR1, SIK1, SIL1, SIM1, SIM2, SIPA1, SIPA1L1, SIRT1, SIRT3, SIRT5, SIX1, SIX2, SIX3, SIX5, SIX6, SKI, SKIV2L, SLC10A1, SLC10A2, SLC11A1, SLC11A2, SLC12A1, SLC12A2, SLC12A3, SLC12A5, SLC12A6, SLC13A2, SLC13A5, SLC14A1, SLC15A1, SLC16A1, SLC16A12, SLC16A2, SLC17A3, SLC17A5, SLC17A8, SLC18A2, SLC19A2, SLC19A3, SLC1A1, SLC1A3, SLC1A4, SLC1A5, SLC20A2, SLC22A1, SLC22A12, SLC22A18, SLC22A2, SLC22A3, SLC22A4, SLC22A5, SLC22A6, SLC22A9, SLC24A1, SLC24A2, SLC24A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A16, SLC25A19, SLC25A20, SLC25A21, SLC25A22, SLC25A3, SLC25A32, SLC25A35, SLC25A38, SLC25A39, SLC25A4, SLC25A42, SLC25A5, SLC25A6, SLC26A1, SLC26A10, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A6, SLC26A9, SLC27A4, SLC27A5, SLC28A1, SLC28A2, SLC28A3, SLC29A2, SLC29A3, SLC2A1, SLC2A10, SLC2A2, SLC2A4, SLC2A9, SLC30A10, SLC30A2, SLC30A5, SLC30A8, SLC33A1, SLC34A1, SLC34A2, SLC34A3, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC35G2, SLC36A2, SLC37A4, SLC39A13, SLC39A4, SLC3A1, SLC40A1, SLC41A1, SLC41A2, SLC41A3, SLC44A2, SLC45A2, SLC46A1, SLC47A1, SLC47A2, SLC4A1, SLC4A10, SLC4A11, SLC4A3, SLC4A4, SLC4A7, SLC52A1, SLC52A2, SLC52A3, SLC5A1, SLC5A11, SLC5A2, SLC5A5, SLC5A7, SLC5A8, SLC6A1, SLC6A11, SLC6A12, SLC6A13, SLC6A14, SLC6A18, SLC6A19, SLC6A2, SLC6A20, SLC6A3, SLC6A4, SLC6A5, SLC6A6, SLC6A8, SLC6A9, SLC7A10, SLC7A11, SLC7A14, SLC7A2, SLC7A7, SLC7A9, SLC9A3R1, SLC9A6, SLC9A9, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1C1, SLCO2A1, SLCO2B1, SLCO5A1, SLFN14, SLFN5, SLIT3, SLITRK1, SLITRK5, SLITRK6, SLMAP, SLPI, SLURP1, SLX4, SMAD1, SMAD2, SMAD3, SMAD4, SMAD5, SMAD6, SMAD7, SMAD9, SMARCA2, SMARCA4, SMARCAD1, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SMCHD1, SMG6, SMIM3, SMN1, SMN2, SMO, SMOC1, SMOC2, SMPD1, SMPD3, SMPX, SMS, SMUG1, SNAI2, SNAP25, SNAP29, SNCA, SNCAIP, SNCB, SNIP1, SNORD37, SNORD56, SNORD57, SNORD59A, SNORD59B, SNORD66, SNORD86, SNRK, SNRNP200, SNRPN, SNTA1, SNTG2, SNURF, SNX10, SNX14, SNX3, SOBP, SOCS3, SOD1, SOD2, SOD3, SOGA3, SOHLH1, SORCS1, SORL1, SORT1, SOS1, SOS2, SOST, SOX10, SOX11, SOX17, SOX18, SOX2, SOX3, SOX5, SOX6, SOX7, SOX9, SP110, SP7, SP8, SPAG1, SPAG17, SPARC, SPART, SPAST, SPATA13, SPATA16, SPATA21, SPATA45, SPATA5, SPATA7, SPECC1, SPECC1L, SPEF2, SPEG, SPG11, SPG21, SPG7, SPI1, SPINK1, SPINK5, SPINT2, SPP1, SPR, SPRED1, SPRED2, SPRN, SPRY2, SPRY4, SPTA1, SPTAN1, SPTB, SPTBN1, SPTBN2, SPTBN5, SPTLC1, SPTLC2, SQSTM1, SRC, SRCAP, SRD5A2, SRD5A3, SREBF1, SREBF2, SRGAP2, SRGAP3, SRI, SRP72, SRPX, SRPX2, SRR, SRY, SSH1, SSPN, SSR4, SSTR5, ST14, ST20-MTHFS, ST3GAL1, ST3GAL2, ST3GAL3, ST3GAL4, ST3GAL5, ST3GAL6, ST5, ST6GAL1, ST6GAL2, ST6GALNAC1, ST6GALNAC2, ST6GALNAC3, ST6GALNAC4, ST6GALNAC5, ST6GALNAC6, ST7, ST8SIA1, ST8SIA2, ST8SIA3, ST8SIA4, ST8SIA5, ST8SIA6, STAC3, STAMBP, STAR, STAT1, STAT3, STAT4, STAT5B, STEAP3, STIL, STIM1, STK11, STK11IP, STK3, STK36, STK39, STK4, STOX1, STRA6, STRADA, STRC, STS, STT3A, STT3B, STUB1, STX11, STX16, STX1B, STXBP1, STXBP2, SUCLA2, SUCLG1, SUCO, SUFU, SUGCT, SULF1, SULT1C2, SULT2A1, SULT2B1, SULT4A1, SUMF1, SUMO4, SUOX, SURF1, SV2B, SYCE2, SYCP3, SYK, SYN1, SYN2, SYNE1, SYNE2, SYNE4, SYNGAP1, SYNGR1, SYNM, SYNPO, SYP, SYT14, SYT2, SYTL3, SYTL5, SZT2, TAAR1, TAAR9, TAB2, TAC3, TACO1, TACR3, TACSTD2, TAF1, TAF15, TAF1C, TAF1L, TAF2, TAL1, TAL2, TALDO1, TARDBP, TARS2, TAS1R1, TAS1R3, TAS2R16, TAS2R3, TAS2R30, TAS2R38, TAS2R46, TAT, TAZ, TBC1D20, TBC1D23, TBC1D24, TBC1D4, TBCE, TBK1, TBL1X, TBL1XR1, TBP, TBX1, TBX10, TBX15, TBX19, TBX2, TBX20, TBX21, TBX22, TBX3, TBX4, TBX5, TBX6, TBXA2R, TBXAS1, TBXT, TCAP, TCF21, TCF3, TCF4, TCF7L1, TCF7L2, TCIRG1, TCN1, TCN2, TCOF1, TCTE1, TCTE3, TCTN1, TCTN2, TCTN3, TDO2, TDP1, TDRD7, TEAD1, TEC, TECPR2, TECR, TECTA, TEK, TEKT2, TENM3, TERC, TERT, TET1, TET2, TEX14, TF, TFAM, TFAP2A, TFAP2B, TFB1M, TFE3, TFF1, TFPI, TFR2, TFRC, TG, TGFB1, TGFB2, TGFB3, TGFBI, TGFBR1, TGFBR2, TGFBR3, TGIF1, TGM1, TGM2, TGM5, TGM6, TH, THAP1, THBD, THBS1, THBS2, THOC2, THOC6, THPO, THRA, THRB, THSD7A, TIA1, TICAM1, TIMM13, TIMM44, TIMM50, TIMM8A, TIMM9, TIMP3, TINAG, TINF2, TIRAP, TJP2, TK2, TKT, TLL1, TLR1, TLR2, TLR3, TLR4, TLR5, TLR6, TLR9, TLX1, TLX2, TLX3, TM4SF19, TMC1, TMC2, TMC6, TMC8, TMCO1, TMEM114, TMEM126A, TMEM127, TMEM132E, TMEM135, TMEM138, TMEM165, TMEM173, TMEM187, TMEM216, TMEM231, TMEM237, TMEM240, TMEM38B, TMEM43, TMEM67, TMEM70, TMEM8A, TMEM99, TMIE, TMPO, TMPRSS15, TMPRSS3, TMPRSS5, TMPRSS6, TMTC3, TNC, TNF, TNFRSF10B, TNFRSF11A, TNFRSF11B, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF1B, TNFRSF9, TNFSF11, TNFSF14, TNFSF4, TNK2, TNKS, TNNC1, TNNI2, TNNI3, TNNI3K, TNNT1, TNNT2, TNNT3, TNP1, TNPO3, TNR, TNS2, TNS3, TNXB, TOMM40, TOP1, TOP1MT, TOP2A, TOPORS, TOR1A, TP53, TP53BP1, TP53RK, TP63, TP73, TPCN2, TPH1, TPH2, TPI1, TPK1, TPM1, TPM2, TPM3, TPMT, TPO, TPP1, TPRN, TRADD, TRAF3, TRAF3IP2, TRAK1, TRAPPC11, TRAPPC2, TRAPPC9, TRDN, TREH, TREM2, TRERF1, TREX1, TRHR, TRIB2, TRIB3, TRIM2, TRIM21, TRIM24, TRIM32, TRIM33, TRIM37, TRIO, TRIOBP, TRIP11, TRIP12, TRMT10A, TRMU, TRNT1, TROAP, TROVE2, TRPC3, TRPC4, TRPC6, TRPM1, TRPM2, TRPM3, TRPM4, TRPM6, TRPM7, TRPS1, TRPV1, TRPV3, TRPV4, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TSG101, TSHB, TSHR, TSHZ1, TSLP, TSPAN12, TSPAN7, TSPEAR, TSPO, TSPYL1, TSSC4, TSSK4, TST, TTBK2, TTC19, TTC21B, TTC37, TTC7A, TTC8, TTI2, TTLL1, TTLL5, TTN, TTN-AS1, TTPA, TTR, TUB, TUBA1A, TUBA1B, TUBA1C, TUBA8, TUBB, TUBB1, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP5, TUBGCP6, TUFM, TULP1, TUSC3, TWIST1, TWIST2, TWNK, TXN2, TXNIP, TXNL4A, TXNRD2, TYK2, TYMP, TYMS, TYR, TYRO3P, TYROBP, TYRP1, UACA, UBA1, UBAC2, UBE2A, UBE2B, UBE2NL, UBE3A, UBE3C, UBIAD1, UBQLN2, UBR1, UBR3, UBR5, UBR7, UCHL1, UCN, UCP1, UCP2, UCP3, UGCG, UGGT1, UGGT2, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT2A1, UGT2A2, UGT2B10, UGT2B11, UGT2B4, UGT2B7, UGT8, UIMC1, ULK4, UMOD, UMPS, UNC119, UNC13D, UNC5C, UNC5CL, UNC80, UNG, UNKL, UPB1, UPF3B, UPK3A, UQCC2, UQCRB, UQCRC2, UQCRQ, UROC1, UROD, UROS, USB1, USF1, USH1C, USH1G, USH2A, USP1, USP15, USP26, USP46, USP9X, USP9Y, UST, UTF1, UTP4, UTRN, UVSSA, VAMP1, VAMP7, VANGL1, VANGL2, VAPB, VARS2, VAV1, VAX1, VCAM1, VCAN, VCL, VCP, VCX3B, VDAC1, VDR, VEGFA, VHL, VIM, VIPAS39, VKORC1, VLDLR, VMA21, VNN1, VPS13A, VPS13B, VPS33B, VPS35, VPS45, VPS53, VPS54, VRK1, VSIG4, VSX1, VSX2, VWF, WARS2, WAS, WASF3, WASHC4, WASHC5, WDFY3, WDPCP, WDR11, WDR13, WDR19, WDR26, WDR35, WDR36, WDR45, WDR62, WDR72, WDR73, WDR81, WFS1, WHRN, WIPF1, WISP3, WNK1, WNK4, WNT1, WNT10A, WNT10B, WNT3, WNT4, WNT5A, WNT7A, WRAP53, WRN, WT1, WWC1, WWOX, WWTR1, XBP1, XDH, XIAP, XK, XPA, XPC, XPNPEP2, XPNPEP3, XRCC1, XRCC2, XRCC3, XRCC4, XRCC5, XYLT1, XYLT2, YAP1, YARS, YARS2, YWHAE, YY1, ZAN, ZAP70, ZBTB16, ZBTB18, ZBTB24, ZBTB40, ZBTB41, ZBTB42, ZC3H14, ZC4H2, ZCCHC12, ZCCHC13, ZCCHC8, ZDHHC15, ZDHHC17, ZDHHC9, ZEB1, ZEB2, ZFAT, ZFHX3, ZFP36, ZFP36L1, ZFP36L2, ZFP57, ZFP69, ZFP90, ZFPM2, ZFYVE26, ZFYVE27, ZHX3, ZIC1, ZIC2, ZIC3, ZIC4, ZMPSTE24, ZMYM3, ZMYND10, ZNF213, ZNF335, ZNF365, ZNF408, ZNF41, ZNF420, ZNF423, ZNF469, ZNF480, ZNF507, ZNF513, ZNF526, ZNF592, ZNF644, ZNF674, ZNF711, ZNF750, ZNF75D, ZNF80, ZNF804A, ZNF81, ZNHIT6, ZP1, ZPBP, ZPBP2 (4717遺伝子)

検体

血液

唾液* 口腔粘膜ぬぐい液*

*唾液・口腔ぬぐい液の場合、遠隔地の方でもオンライン診療（ビデオスルーでの診察の事をいいます）で遺伝カウンセリングをしたのち、検体を当院にお送りいただく形で、当院にお越しにならずに検査が可能です。遠方の方でもお受けいただけます。

検査の限界

エクソーム／完全解析は、一個人（プローバンドのみ）を対象とした表現型主導型の検査です。家族歴および臨床情報は、すべてのクリニカル・エクソーム検査オーダーに必要です。検査適応や臨床表現型に合致しない偶発所見や二次所見は定期的に報告されません。すべてのシーケンス技術には限界があります。この解析は次世代シーケンサー（NGS）により行われ、コーディング領域とスプライシングジャンクションを調べるように設計されています。次世代シーケンス技術および当社のバイオインフォマティクス解析では、偽遺伝子配列やその他の高相同配列の寄与は大幅に減少しますが、それでも時折、シーケンス解析および欠失／重複解析の両方において、病原性バリアントアレルを同定するアッセイの技術的能力を阻害する可能性があります。サンガー配列決定は、品質スコアが低いバリアントを確認し、カバレッジ基準を満たすために使用されます。オーダーがあれば、欠失／重複解析は、1つの遺伝子全体（頬ぬぐい検体および全血検体）を含み、2つ以上の連続したエクソンサイズ（全血検体のみ）のゲノム領域の変化を同定することができます。同定された推定欠失または重複は、直交法（qPCR または MLPA）によって確認されます。本アッセイでは、転座や逆位、ほとんどの反復拡大（例えば、トリヌクレオチドやヘキサヌクレオチド）、ほとんどの制御領域（プロモーター領域）や深いイントロン領域（エクソンから 20bp 以上）の変化など（ただし、これらに限定されない）、疾患の原因となる可能性のある特定のタイプのゲノム変化は検出されません。リピートエクスパンション解析を実施した場合、大きなエクスパンションに存在する正確なリピート数を引き出せない可能性があります。このアッセイは、体細胞変異やモザイク変異の検出用に設計または検証されていません。

特記事項

遺伝子	特記事項
CD40LG	現在の検査方法では、この遺伝子のトリヌクレオチドリピート拡張は評価されない。
DIP2B	現在の検査方法では、この遺伝子における三塩基反復の拡大は評価されない。
GALNT12	GC含量が高いため、GALNT12遺伝子（NM_024642.4）のエクソン1に位置するコピー数バリアントは確実に検出できず、報告されない。
IL11RA	現在の検査法では、この遺伝子のリピートエクスパンションは評価されない。
PIK3CA	PIK3CA 病原変異体の大部分は接合後に発生し、そのためモザイクであるため、複数の組織を検査する必要がある場合がある。PIK3CA病原性変異体が検出されなくても、示唆的な特徴を有する個体におけるPIK3CA関連分節性過成長症の臨床診断が除外されるわけではない(PubMed: 23946963)。
RUNX2	現在の検査法では、この遺伝子における三塩基反復の拡大は評価されない。
SMN2	SMN2(NM_017411.3)の現在の検査方法は、SMN1で診断結果が検出されたことを条件として、エクソン7-8の塩基配列決定と欠失/重複解析に限定されている。この遺伝子の他の領域については、塩基配列の決定と欠失／重複解析は行われない。
SOX3	現在の検査方法では、この遺伝子における三塩基反復の拡大は評価されない。
TPRN	この遺伝子のエクソン 1 は、現在のシークエンシング法では解析できないため、この領域のシークエンシングと欠失／重複解析は実施しない。
ZIC2	現在の検査方法では、この遺伝子における三塩基反復の拡大は評価されない。
ZIC3	現在の検査方法では、この遺伝子における三塩基反復の拡大は評価されない。