Rapid Mendelian Sequencing Gene List December 2018

NOTE: The information in this table is based on files downloaded from HGNC and OMIM on 2018-12-03. Coding exons covered for all RefSeq transcripts except ones listed below Gene Coding Exons Not Covered OMIM Number Gene Aliases A2M 103950 FWP007, S863-7, CPAMD5 A2ML1 610627 CPAMD9, FLJ25179, p170 A4GALT 607922 P1, A14GALT, Gb3S, P(k) AAAS 605378 AAGAB 614888 FLJ11506, p34 AANAT 600950 SNAT AARS 601065 CMT2N, AlaRS AARS2 612035 AARSL, KIAA1270, bA444E17.1 AASS 605113 LORSDH, LKRSDH AATF 608463 DED, CHE-1, CHE1, BFR2 ABAT 137150 GABAT ABCA1 600046 ABC1, HDLDT1, TGD ABCA12 607800 ICR2B, DKFZP434G232, LI2 ABCA13 607807 FLJ33876, FLJ33951 ABCA3 601615 ABC3, ABC-C, EST111653, LBM180 STGD1, ABCR, RP19, STGD, FFM, ARMD2, ABCA4 601691 CORD3 ABCA5 612503 EST90625 ABCA7 605414 ABCX ABCA8 612505 KIAA0822 ABCB1 171050 PGY1, MDR1, CLCS, P-gp, CD243, GP170, ABC20 ABCB11 603201 BSEP, PFIC2, ABC16, SPGP, PFIC-2, PGY4 ABCB4 171060 PGY3, MDR3, MDR2, PFIC-3, GBD1 ABCB6 605452 EST45597, umat, MTABC3 ABCB7 300135 ABC7, EST140535, Atm1p, ASAT ABCC1 158343 MRP, MRP1, GS-X ABCC11 607040 MRP8 ABCC12 607041 MRP9 ABCC2 601107 CMOAT, DJS, MRP2, cMRP ABCC3 604323 MRP3, cMOAT2, EST90757, MLP2, MOAT-D ABCC4 605250 MRP4, EST170205, MOAT-B, MOATB NM_001171.5: 1-9 ABCC6 603234 ARA, PXE, MRP6, EST349056, MLP1, URG7 NM_001079528.3: 1-2 SUR, HRINS, HI, PHHI, SUR1, MRP8, ABC36, ABCC8 600509 HHF1, TNDM2 ABCC9 601439 SUR2, CMD1O ABCD1 300371 ALD, AMN, ALDP, adrenoleukodystrophy ABCD3 170995 PXMP1, PMP70, ZWS2 ABCD4 603214 PXMP1L, PMP69, P70R, EST352188 ABCG1 603076 ABC8 NM_207629.1: 1 ABCG2 603756 EST157481, MXR, BCRP, ABCP, CD338 ABCG5 605459 STSL

Page 1 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases ABCG8 605460 GBD4 C20orf22, DKFZP434P106, dJ965G21.2, ABHD12 613599 BEM46L2, ABHD12A ABHD5 604780 CGI-58, NCIE2 ABL1 189980 ABL, JTK7, c-ABL, p150 ABL2 164690 ABLL, ARG CCDC98, FAM175A, FLJ13614, ABRA1, ABRAXAS1 611143 ABRAXAS ABRAXAS2 611144 KIAA0157, FAM175B, Em:AC068896.4, ABRO1 ACAA1 604054 ACAD8 604773 ACAD9 611103 NPD002, MGC14452 ACADL 609576 LCAD, ACAD4 ACADM 607008 MCAD, MCADH, ACAD1 ACADS 606885 SCAD, ACAD3 ACADSB 600301 SBCAD, ACAD7 ACADVL 609575 VLCAD, LCACD, ACAD6 NM_013227.3: 12 ACAN 155760 MSK16, CSPG1, AGC1, CSPGCP NM_001135.3: 12 ACAT1 607809 ACAT, THIL ACBD5 616618 DKFZp434A2417, KIAA1996 ACBD6 616352 MGC2404 ACD 609377 Ptop, Pip1, Tpp1, Tint1 ACE 106180 DCP1, ACE1, CD143 ACER3 617036 PHCA, FLJ11238, APHC ACHE 100740 YT ACKR1 613665 FY, DARC, CCBP1, GPD, Dfy, CD234 ACLY 108728 ATPCL, CLATP, ACL ACMSD 608889 ACO2 100850 ACONM ACOX1 609751 PALMCOX ACOX2 601641 BRCACOX, BRCOX, THCCox ACP4 606362 ACPT ACP5 171640 TRAP, HPAP ACP6 611471 LPAP, ACPL1 ACSF3 614245 ACSL4 300157 FACL4, MRX63, MRX68, ACS4, LACS4 ACSL6 604443 FACL6, KIAA0837, ACS2, LACS5, LACS2 ACSS2 605832 ACAS2, ACS, ACSA, AceCS, dJ1161H23.1 ACTA1 102610 ACTA, NEM3 ACTA2 102620 ACTSA ACTB 102630 ACTC1 102540 ACTC, CMD1R ACTG1 102560 ACTG, DFNA20, DFNA26 ACTG2 102545 ACTL3, ACTA3, ACTSG

Page 2 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases ACTN1 102575 ACTN2 102573 ACTN4 604638 FSGS1 ACVR1 102576 ACVRLK2, SKR1, ALK2, ACVR1A ACVR1B 601300 ACVRLK4, ALK4, SKR2, ActRIB ACVR2B 602730 ActR-IIB ACVRL1 601284 ACVRLK1, ORW2, HHT2, ALK1, HHT ACY1 104620 ADA 608958 ADA2 607575 IDGFL, CECR1, ADGF ADAM10 602192 kuz, MADM, HsT18717, CD156c ADAM17 603639 TACE, cSVP, CD156B ADAM22 603709 MDC2 ADAM9 602713 CORD9, MDC9, KIAA0021, MCMP, Mltng ADAMTS1 605174 C3-C5, METH1, KIAA1346 ADAMTS10 608990 ADAM-TS10 C9orf8, VWFCP, TTP, vWF-CP, FLJ42993, ADAMTS13 604134 MGC118899, MGC118900, DKFZp434C2322 ADAMTS17 607511 FLJ32769, FLJ16363 ADAMTS18 607512 ADAMTS21 NM_014244.4: 1 ADAMTS2 604539 ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI NM_021599.3: 1 NM_014694.3: 10-19 ADAMTSL2 612277 KIAA0605 NM_001145320.1: 10-19 ADAMTSL4 610113 TSRC1, DKFZP434K1772 ADAR 146920 IFI4, G1P1, ADAR1 ADAT3 615302 TAD3 ADCY1 103072 DFNB44, AC1 ADCY10 605205 SAC, Sacy, SACI, HCA2, RP1-313L4.2 ADCY5 600293 AC5 ADCY6 600294 AC6 ADD1 102680 ADD3 601568 ADDL NM_145290.3: 1 ADGRA3 612303 GPR125, FLJ38547, PGR21 NM_013447.3: 3, 6, 8-9 ADGRE2 606100 EMR2, CD312 NM_001271052.1: 2, 5, 7-8 ADGRG1 604110 GPR56, TM7LN4, TM7XN1 ADGRG2 300572 GPR64, HE6, TM7LN2, EDDM6 ADGRG6 612243 GPR126, FLJ14937 USH2C, MASS1, GPR98, DKFZp761P0710, ADGRV1 602851 KIAA0686, FEB4, VLGR1 ACDC, ACRP30, AdipoQ, apM1, GBP28, ADIPOQ 605441 adiponectin ADIPOR1 607945 PAQR1, ACDCR1 ADIPOR2 607946 PAQR2, ACDCR2

Page 3 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases ADK 102750 AK ADNP 611386 KIAA0784, ADNP1 ADORA1 102775 RDC7 ADORA2A 102776 ADORA2, RDC8

ADRA1A NM_001322503.1: 2 104221 ADRA1C, ADRA1L1 NM_033303.4: 3 ADRA2A 104210 ADRA2, ADRA2R, ADRAR ADRA2B 104260 ADRA2L1, ADRA2RL1, ADRARL1 ADRA2C 104250 ADRA2L2, ADRA2RL2, ADRARL2 ADRB1 109630 ADRB1R ADRB2 109690 ADRB2R, ADRBR, BAR, B2AR ADRB3 109691 ADSL 608222 ADSSL1 612498 FLJ38602 AEBP1 602981 ACLP AFF2 300806 FMR2, FRAXE AFF4 604417 AF5Q31, MCEF AFG3L2 604581 SCA28, SPAX5 AFP 104150 HPAFP, FETA AGA 613228 ASRG AGBL1 615496 FLJ32310, CCP4 AGBL5 615900 FLJ21839, CCP5 AGER 600214 RAGE, SCARJ1 AGK 610345 MULK, FLJ10842 AGL 610860 AGMO 613738 TMEM195, FLJ16237 AGO1 606228 EIF2C1, hAGO1 AGPAT2 603100 BSCL, LPAAT-beta AGPS 603051 ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S AGRN 103320 AGRIN AGRP 602311 Agrt, ART, ASIP2 AGT 106150 SERPINA8 AGTR1B, AT1, AT2R1, AGTR1A, AT2R1A, AGTR1 106165 HAT1R, AG2S, AT2R1B, AT1B AGTR2 300034 AT2, MRX88 AGXT 604285 SPAT, AGXT1, PH1, AGT, SPT, AGT1 AGXT2 612471 AGT2 AHCY 180960 SAHH AHDC1 615790 DJ159A19.3, RP1-159A19.1 AHI1 608894 FLJ20069, ORF1, JBTS3 AHSP 605821 ERAF, EDRF AICDA 605257 HIGM2, CDA2, ARP2, AID AIFM1 300169 PDCD8, NAMSD, AIF, CMTX4 AIMP1 603605 SCYE1, EMAPII, EMAP-2, p43 AIP 605555 XAP2, ARA9, FKBP16

Page 4 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases AIPL1 604392 LCA4 AIRE 607358 APECED, PGA1, APS1 AK1 103000 AK2 103020 AKAP10 604694 D-AKAP2, PRKA10, MGC9414 PRKA2, AKAP-KL, KIAA0920, DKFZp564L0716, AKAP2 604582 MISP2 KIAA0803, AKAP350, AKAP450, CG-NAP, AKAP9 604001 YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11 AKR1B1 103880 ALDR1, AR NM_001354.5: 6, 9-11 AKR1C2 NM_205845.2: 5, 8-10 600450 DDH2, TDD, DD, BABP, DD2, HAKRD, MCDR2 NM_001321027.1: 6-8 CHDR, DD4, HAKRA, C11, 3-alpha-HSD, CDR, AKR1C4 600451 MGC22581 AKR1D1 604741 SRD5B1 AKR1E2 617451 AKRDC1, AKR1CL2, MGC10612 AKT1 164730 RAC, PKB, PRKBA, AKT AKT2 164731 AKT3 611223 PKBG, RAC-gamma, PRKBG ALAD 125270 ALADH, PBGS ALAS1 125290 ALAS3, ALAS ALAS2 301300 ASB ALB 103600 ALDH18A1 138250 GSAS, PYCS, SPG9, P5CS ALDH1A2 603687 RALDH2 ALDH1A3 600463 ALDH6, RALDH3 ALDH1B1 100670 ALDH5, ALDHX ALDH1L1 600249 FTHFD, 10-fTHF ALDH1L2 613584 FLJ38508, mtFDH ALDH2 100650 ALDH3A2 609523 SLS, ALDH10, FALDH ALDH4A1 606811 ALDH4, P5CDh ALDH5A1 610045 SSADH, SSDH ALDH6A1 603178 MMSDH ALDH7A1 107323 ATQ1, EPD, PDE ALDOA 103850 ALDOB 612724 ALG1 605907 HMT-1, HMAT1, CDG1K, Mat-1 ALG10B KCR1 ALG11 613666 KIAA0266, CDG1P ALG12 607144 ECM39, CDG1G GLT28D1, CXorf45, MDS031, YGL047W, ALG13 300776 FLJ23018, TDRD13, CDG1S ALG14 612866 MGC19780

Page 5 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases ALG2 607905 CDGIi, FLJ14511, hALPG2, NET38, CDG1I ALG3 608750 NOT56L, Not56, CDGS4, D16Ertd36e ALG6 604566 ALG8 608103 MGC2840 ALG9 606941 DIBD1 ALK 105590 CD246 ALMS1 606844 KIAA0328 ALOX12 152391 12S-LOX ALOX12B 603741 12R-LOX ALOXE3 607206 eLOX3, E-LOX ALPK3 617608 MAK, KIAA1330, Midori ALPL 171760 HOPS, TNSALP, TNALP, TNAP ALS2 606352 ALS2CR6 ALX1 601527 CART1 ALX3 606014 FND ALX4 605420 PFM2, FPP, PFM, KIAA1788 AMACR 604489 RACE, P504S AMBN 601259 AMELX 300391 AMG, AIH1 AMER1 300647 FAM123B, RP11-403E24.2, FLJ39827, WTX AMH 600957 MIS AMHR2 600956 MISR2, MISRII AMN 605799 amnionless AMPD1 102770 MAD, MADA AMPD2 102771 SPG63 AMPD3 102772 AMT 238310 GCST, NKH ANG 105850 RNASE5, RAA1 ANGPT1 601667 KIAA0003, Ang1 ANGPTL3 604774 ANGPT5 ANGPTL4 605910 pp1158, PGAR, ARP4, HFARP, FIAF, NL2 ANGPTL5 607666 ANGPTL8 616223 C19orf80, TD26, RIFL ANK1 612641 ANK, SPH1 ANK2 106410 LQT4 ANK3 600465 ANKH 605145 CCAL2, CMDJ, HANK, ANK, CPPDD, SLC62A1 ANKK1 608774 X-kinase ANKLE2 616062 KIAA0692, LEMD7, Lem4 ANKRD1 609599 C-193, ALRP, CARP, CVARP, MCARP NM_013275.5: 13 ANKRD11 NM_001256182.1: 14 611192 LZ16, T13 NM_001256183.1: 13 ANKRD26 610855 THC2, KIAA1074 ANKRD6 610583 KIAA0957

Page 6 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases ANKS1A 608994 ANKS1, KIAA0229 ANKS3 617310 KIAA1977, FLJ32345, FLJ32767 ANKS6 615370 SAMD6, ANKRD14, FLJ36928, NPHP16 ANLN 616027 ANILLIN, Scraps, scra ANO10 613726 TMEM16K, FLJ10375, MGC47890, SCAR10 ANO3 610110 C11orf25, TMEM16C, GENX-3947, DYT23 ANO5 608662 TMEM16E, LGMD2L, GDD1 ANO6 608663 TMEM16F, DKFZp313M0720 ANOS1 300836 KAL, ADMLX, KAL1, KALIG-1, WFDC19 ANTXR1 606410 TEM8, FLJ21776, FLJ10601, ATR ANTXR2 608041 CMG2, CMG-2, FLJ31074 CLAPS1, EKV3, AP19, SIGMA1A, AP1S1 603531 WUGSC:H_DJ0747G18.2 AP1S2 300629 MRX59, MRXS5, PGS, SIGMA1B AP1S3 615781 AP2S1 602242 CLAPS2, HHC3, FBHOk, FBH3 AP3B1 603401 ADTB3A, HPS2 AP3B2 602166 NAPTB AP3D1 607246 ADTD AP4B1 607245 SPG47, BETA-4 AP4E1 607244 AP-4-EPSILON, SPG51 AP4M1 602296 MU-ARP2, MU-4, SPG50 AP4S1 607243 CLA20, AP47B, SPG52 AP5Z1 613653 KIAA0415, SPG48, zeta APAF1 602233 CED4, APAF-1 X11L, MINT2, D15S1518E, LIN-10, MGC:14091, APBA2 602712 HsT16821 APBB1 602709 RIR, Fe65 APBB3 602711 FE65L2 APC 611731 DP2, DP3, DP2.5, PPP1R46 APC2 612034 APCL APCDD1 607479 B7323 APEX, APE, REF1, HAP1, APX, APEN, REF-1, APE- APEX1 107748 1 APH1A 607629 APH-1A, CGI-78 APH1B 607630 PSFL, APH-1B, DKFZp564D0372 APOA1 107680 APOA2 107670 APOA4 107690 APOA5 606368 RAP3, APOA-V APOB 107730 APOC1 107710 APOC2 608083 APOC3 107720 APOE 107741 AD2 APOL1 603743 APOL

Page 7 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases APOPT1 616003 C14orf153, MGC2562, APOP-1 APP 104760 AD1 APPL1 604299 APPL APRT 102600 APTX 606350 AXA1, FLJ20157, AOA, AOA1, EAOH, EOAHA AQP1 107776 CO, CHIP28 AQP2 107777 AQP3 600170 GIL AQP4 600308 MIWC AQP5 600442 AQP7 602974 AQP7L, AQP9, AQPap AR 313700 DHTR, SBMA, AIS, NR3C4, SMAX1, HUMARA ARCN1 600820 COPD ARF1 103180 ARFGEF2 605371 BIG2 ARG1 608313 NM_014783.5: 1-8 NM_001286479.2: 5-8 ARHGAP11A 610589 KIAA0013 NM_199357.2: 1-8 NM_001286480.2: 6-9 ARHGAP24 610586 DKFZP564B1162, FLJ33877, FilGAP ARHGAP26 605370 GRAF, KIAA0621, OPHN1L, OPHN1L1 ARHGAP29 610496 PARG1 ARHGAP31 610911 CDGAP ARHGAP4 300023 KIAA0131, C1, p115, RhoGAP4, SrGAP4 ARHGAP6 300118 rhoGAPX-1 ARHGDIA 601925 GDIA1, RHOGDI ARHGEF10 608136 KIAA0294, Gef10 KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, ARHGEF15 608504 MGC44868 ARHGEF28 612790 RGNEF, p190RhoGEF, RIP2 MRX46, alphaPIX, Cool-2, KIAA0006, alpha-PIX, ARHGEF6 300267 Cool2 ARHGEF9 300429 KIAA0424, PEM-2 C1orf4, SMARCF1, B120, P270, C10rf4, BAF250, ARID1A 603024 BAF250a KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, ARID1B 614556 6A3-5 ARID2 609539 KIAA1557, DKFZp686G052, FLJ30619, BAF200 ARL13B 608922 ARL2L1, DKFZp761H079, JBTS8 ARL14EP 612295 C11orf46, FLJ38968, ARF7EP ARL2BP 615407 RP66, BART1, BART ARL6 608845 BBS3, RP55

Page 8 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases ARL6IP1 607669 ARL6IP, AIP1, ARMER, KIAA0069, SPG61 ARL6IP6 616495 MGC33864 NM_018076.4: 9 NM_001290020.1: 9 ARMC4 615408 FLJ10817, FLJ10376, DKFZP434P1735, CILD23 NM_001312689.1: 4 NM_001290021.1: 13 ARMC5 615549 FLJ13063 ARMC9 617612 FLJ12584, KIAA1868, ARM, KU-MEL-1 ARMS2 611313 LOC387715, ARMD8 ARNT2 606036 KIAA0307, bHLHe1 ARPC1B 604223 ARC41, p40-ARC, p41-ARC ARSA 607574 ARSB 611542 ARSE 300180 CDPX, CDPX1 ARSI 610009 FLJ16069, SPG66 ARV1 611647 MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, ARX 300382 MRX29, MRX32, MRX33, MRX38, MRX87, ISSX, CT121, EIEE1 ASAH1 613468 ASAH, AC, PHP32, FLJ21558, ACDase ASB10 615054 GLC1F ASCC1 614215 CGI-18, ASC1p50, Em:AC022392.3 HELIC1, RNAH, ASC1p200, dJ121G13.4, ASCC3 614217 dJ467N11.1 ASCL1 100790 ASH1, HASH1, bHLHa46 ASGR1 108360 CLEC4H1 ASH1L 607999 huASH1, ASH1, ASH1L1, KMT2H ASL 608310 300015 ASMT HIOMT, ASMTY, HIOMTY 402500 ASNS 108370 ASPA 608034 ASP, ACY2 ASPH 600582 CASQ2BP1, BAH, JCTN, HAAH ASPM 605481 MCPH5, Calmbp1, ASP, FLJ10517, FLJ10549 ASPN 608135 FLJ20129, SLRR1C, PLAP-1 ASPRV1 611765 Taps, SASPase, FLJ25084 ASPSCR1 606236 ASPS, ASPL, UBXD9, UBXN9, TUG ASRGL1 609212 FLJ22316, ALP1, ALP ASS1 603470 ASS, CTLN1 ASXL1 612990 KIAA0978 ASXL2 612991 ASXH2, FLJ10898, KIAA1685 ASXL3 615115 KIAA1713 NM_001170535.1: 3-4, 11, 13 ATAD3A NM_001170536.1: 3-4, 11, 13 612316 FLJ10709 NM_018188.3: 3-4, 11, 13 ATAD5 609534 C17orf41, FLJ12735, FRAG1, ELG1

Page 9 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases ATCAY 608179 BNIP-H ATF3 603148 ATF4 604064 TXREB, TAXREB67, CREB-2 ATF6 605537 ATF6A ATG16L1 610767 APG16L, ATG16L, WDR30, FLJ10035, ATG16A ATG2B 616226 C14orf103, FLJ10242 ATG5 604261 APG5L, ASP, APG5, hAPG5 ATG7 608760 APG7L, GSA7, DKFZp434N0735 ATIC 601731 PURH, AICARFT, IMPCHASE ATL1 606439 SPG3, SPG3A, FSP1, AD-FSP ATL3 609369 DKFZP564J0863 ATM 607585 ATA, ATDC, ATC, ATD, TEL1, TELO1 ATN1 607462 D12S755E, DRPLA, B37 ATOH7 609875 Math5, bHLHa13 ATP11C 300516 ATPIG, ATPIQ ATP13A2 610513 PARK9, HSA9947, CLN12 ATP1A1 182310 NM_000702.3: 9 ATP1A2 182340 MHP2, FHM2 ATP1A3 182350 DYT12 ATP2A1 108730 ATP2A, SERCA1 ATP2A2 108740 ATP2B, DAR, SERCA2 ATP2A3 601929 SERCA3 ATP2B2 108733 PMCA2 ATP2B3 300014 SCAX1, CLA2, PMCA3, CFAP39 ATP2B4 108732 ATP2B2, MXRA1, PMCA4 ATP2C1 604384 BCPM, KIAA1347, ATP2C1A, PMR1, SPCA1 ATP4A 137216 ATP6A ATP5AL2, ATPM, ATP5A1, ATP5A, hATP1, OMR, ATP5F1A 164360 ORM ATP6S1, ATP6IP1, ORF, XAP-3, VATPS1, 16A, ATP6AP1 300197 Ac45, XAP3, CF2 ATP6IP2, M8-9, APT6M8-9, ATP6M8-9, PRR, ATP6AP2 300556 RENR TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, ATP6V0A2 611716 Vph1, Stv1 ATP6N1B, ATP6N2, RTA1C, RDRTA2, VPP2, ATP6V0A4 605239 RTADR, a4, Vph1, Stv1 ATP6V0D2 618072 ATP6D2, FLJ38708, VMA6 ATP6V1B1 192132 VPP3, ATP6B1, VATB, RTA1B, Vma2 ATP6V1B2 606939 VPP3, ATP6B2, VATB, Vma2, HO57 ATP6V1E1 108746 ATP6E, ATP6V1E, P31, Vma4, ATP6E2 ATP7A 300011 MNK ATP7B 606882 WND ATP8A2 605870 ATPIB, ML-1

Page 10 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases ATP8B1 602397 FIC1, BRIC, PFIC1, ATPIC, PFIC ATPAF2 608918 Atp12p, ATP12, LP3663, MGC29736 ATR 601215 FRP1, SCKL, SCKL1, MEC1 ATRIP 606605 FLJ12343, MGC20625, MGC21482, MGC26740 ATRX 300032 RAD54, JMS, MRX52, XH2, XNP ATXN1 601556 SCA1, D6S504E, ATX1 ATXN10 611150 SCA10, E46L, FLJ37990 ATXN2 601517 SCA2, TNRC13, ATX2 ATXN3 607047 SCA3, MJD, ATX3, JOS NM_000333.3: 3 ATXN7 607640 SCA7, OPCA3, ADCAII, SGF73 NM_001177387.1: 2 ATXN8OS 603680 SCA8, KLHL1AS, NCRNA00003 AUH 600529 STK12, Aik2, IPL1, AurB, AIM-1, ARK2, STK5, AURKB 604970 PPP1R48 AURKC 603495 STK13, AurC, ARK3 NM_001015879.1: 1 AUTS2 607270 KIAA0442, FBRSL2 AVP 192340 ARVP, ADH AVPR2 300538 DIR3, DIR, V2R AXIN1 603816 PPP1R49 AXIN2 604025 MGC126582, DKFZp781B0869 AXL 109135 UFO, JTK11, Tyro7, ARK B2M 109700 B3GALNT1 603094 B3GALT3, beta3Gal-T3, galT3, P1, GLOB B3GALNT2 610194 MGC39558 NM_001277155.2: 2 B3GAT3 606374 GlcAT-I B3GLCT 610308 B3GALTL, B3GTL, B3Glc-T B3GNT1, B3GNT-2, BETA3GNT, B3GN-T2, B3GN- B3GNT2 605581 T1 B4GALNT1 601873 GALGT, SPG26, beta1-4GalNAc-T B4GALT1 137060 GGTB2, beta4Gal-T1 B4GALT7 604327 XGALT-1, beta4Gal-T7 B3GNT6, B3GNT1, iGNT, iGAT, iGnT, B4GAT1 605517 BETA3GNTI, B3GN-T1 B9D1 614144 B9, EPPB9, MKS9 B9D2 611951 MGC4093, MKS10 BAAT 602938 BAT BACE1 604252 BACE BAG3 603883 BANF1 603811 BAF BAP1 603089 hucep-6, KIAA0272, UCHL2 BARD1 601593 BAX 600040 BCL2L4

Page 11 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases BAZ1A 605680 hACF1, ACF1, WALp1, WCRF180 BBIP1 613605 NCRNA00081, bA348N5.3, BBIP10, BBS18 BBS1 209901 FLJ23590 BBS10 610148 C12orf58, FLJ23560 BBS12 610683 C4orf24, FLJ35630, FLJ41559 BBS2 606151 BBS BBS4 600374 BBS5 603650 DKFZp762I194 BBS7 607590 FLJ10715, BBS2L1 BBS9 607968 B1, PTHB1 BCAM 612773 LU, CD239 BCAP31 300398 DXS1357E, BAP31, 6C6-Ag, CDM BCAT2 113530 BCT2, BCAM BCHE 177400 CHE1, CHE2, E1 BCKDHA 608348 OVD1A, MSU BCKDHB 248611 BCKDK 614901 BCL10 603517 CARMEN, CIPER, mE10, c-E10, CLAP EVI9, BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, BCL11A 606557 HBFQTL5, ZNF856 BCL11B 606558 ZNF856B, CTIP-2, CTIP2, hRIT1-alpha BCL2 151430 Bcl-2, PPP1R50 BCL2L11 603827 BOD, BimL, BimEL, BimS, BIM BCL7A 601406 BCL7 BCL9 602597 BCL9L 609004 DLNB11, B9L, Bcl9-2 BCO1 605748 BCDO, BCDO1, BCMO1, FLJ10730, BCMO BCOR 300485 FLJ20285, KIAA1575 BCORL1 300688 CXorf10, FLJ11362 NM_004327.3: 18 BCR 151410 D22S11, BCR1, D22S662, CML, PHL, ALL NM_021574.2: 17 BCS1L 603647 Hs.6719, BCS, h-BCS, BJS BDNF 113505 TFNR, TAF3B1, TFIIIB150, TFC5, TFIIIB90, BDP1 607012 KIAA1689, HSA238520, KIAA1241 BEAN1 612051 SCA31 BEST1 607854 VMD2, BMD, BEST, RP50 BFSP1 603307 CP94, CP115, LIFL-H, filensin BFSP2 603212 CP47, CP49, LIFL-L, phakinin BGN 301870 DSPG1, SLRR1A BHLHA9 615416 bHLHa9, BHLHF42 BHLHE41 606200 BHLHB3, DEC2, SHARP-1, SHARP1, bHLHe41 BICC1 614295 BICD2 609797 KIAA0699 BIN1 601248 AMPHL, SH3P9, AMPH2

Page 12 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases BLK 191305 MGC10442 BLM 604610 BS, RECQL3, RECQ2 BLMH 602403 BH BLNK 604515 SLP65, Ly57, SLP-65, BLNK-s, BASH, bca BLOC1S3 609762 BLOS3, HPS8 BLOC1S6 604310 PA, PLDN, HPS9 BLVRA 109750 BLVR BMP1 112264 PCOLC, BMP-1 BMP15 300247 GDF9B BMP2 112261 BMP2A BMP4 112262 BMP2B BMP6 112266 VGR, VGR1 BMP7 112267 OP-1 BMPER 608699 Cv2, CRIM3 NM_004329.2: 12-13 BMPR1A 601299 ACVRLK3, ALK3, CD292 BMPR1B 603248 ALK6, CDw293 BMPR2 600799 PPH1, BRK-3, T-ALK, BMPR3, BMPR-II NM_014753.3: 5 BMS1 611448 BMS1L, KIAA0187 BNC2 608669 BSN2, FLJ20043 BOD1 616745 FAM44B BOLA3 613183 BPGM 613896 BPTF 601819 FALZ, FAC1, NURF301 BRAF 164757 BRAF1 BRAT1 614506 C7orf27, BAAT1, MGC22916 BRCA1 113705 RNF53, BRCC1, PPP1R53, FANCS FANCD1, FACD, FANCD, FAD, FAD1, BRCC2, BRCA2 600185 XRCC11 BRCC3 300617 CXorf53, C6.1A, BRCC36 BRD2-IT1, KIAA9001, RING3, D6S113E, NAT, BRD2 601540 FSRG1 BRF1 604902 TAF3B2, TAF3C, GTF3B, TFIIIB90, BRF, hBRF BRIP1 605882 OF, BACH1, FANCJ BRPF1 602410 BR140 BRWD3 300553 FLJ38568, MRX93 BSCL2 606158 GNG3LG, SPG17, seipin BSND 606412 DFNB73, BART BTBD9 611237 KIAA1880, dJ322I12.1 BTD 609019 BTG2 601597 PC3, TIS21, MGC126063, MGC126064, APRO1 BTK 300300 AGMX1, IMD1, ATK, XLA, PSCTK1 BUB1 602452 BUB1L, hBUB1, BUB1A

Page 13 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases BUB1B 602860 BUBR1, MAD3L, Bub1A, SSK1 BUB3 603719 BUB3L BVES 604577 HBVES, POP1, POPDC1 C11orf65 MGC33948 C12orf4 616082 C12orf57 615140 GRCC10, C10 C12orf65 613541 FLJ38663, SPG55 C15orf41 615626 HH114, MGC11326, FLJ22851 SPG43, MGC10922, DKFZP762D096, NBIA4, C19orf12 614297 MPAN C1GALT1C1 300611 COSMC, C1GALT2 C1QA 120550 C1QB 120570 C1QBP 601269 HABP1, gC1Q-R, gC1qR, p32, SF2p32 C1QC 120575 C1QG C1QTNF5 608752 CTRP5, DKFZp586B0621, LORD C1R 613785 C1S 120580 C2 613927 C2CD3 615944 DKFZP586P0123 C3 120700 CPAMD1, ARMD9, C3a, C3b C3AR1 605246 C3AR, AZ3B C4BPA 120830 C4BP C4BPB 120831 C4BP C5 120900 CPAMD4, C5a, C5b C5AR1 113995 C5R1, C5A, C5AR, CD88 C5AR2 609949 GPR77, C5L2 C6 217050 C7 217070 C8A 120950 C8B 120960 C8G 120930 C8orf34 vest-1, VEST1 C8orf37 614477 FLJ30600, CORD16, RP64, BBS21 C9 120940 C9orf72 614260 MGC23980, DENNL72 CA1 114800 Car1 CA12 603263 HsT18816 CA2 611492 Car2, CA-II, CAII CA4 114760 RP17, CAIV, Car4 CA5A 114761 CA5, CAV, CAVA CA8 114815 CALS, CARP CAB39 612174 CGI-66, MO25 CABIN1 604251 KIAA0330, PPP3IN CABP2 607314 DFNB93 CABP4 608965 CSNB2B

Page 14 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases CACNL1A4, SCA6, MHP1, MHP, Cav2.1, EA2, CACNA1A 601011 APCA, HPCA, FHM NM_000718.3: 1 CACNA1B 601012 CACNL1A5, Cav2.2, CACNN NM_001243812.1: 1 CCHL1A1, CACNL1A1, Cav1.2, CACH2, CACN2, CACNA1C 114205 TS, LQT8 CACNA1D 114206 CCHL1A2, CACNL1A2, Cav1.3, CACH3, CACN4 CACNA1E 601013 CACNL1A6, Cav2.3, BII, CACH6 CSNB2, AIED, Cav1.4, JM8, JMC8, CSNBX2, CACNA1F 300110 CORDX3, CSNB2A, OA2 CACNA1G 604065 Cav3.1, NBR13 CACNA1H 607904 Cav3.2 CACNA1S 114208 HOKPP, MHS5, CACNL1A3, Cav1.1, hypoPP CACNL2A, CACNA2, MHS3, LINC01112, lncRNA- CACNA2D1 114204 N3 CACNA2D2 607082 KIAA0558 CACNA2D4 608171 CACNB2 600003 MYSB, CACNLB2 CACNB4 601949 EJM4 CACNG2 602911 stargazin, MGC138502, MGC138504 CAD 114010 GATD4 TSLC1, IGSF4, NECL2, ST17, BL2, SYNCAM, CADM1 605686 IGSF4A, Necl-2, SYNCAM1, RA175 CADPS2 609978 CAPS2 CALCOCO2 604587 MGC17318, NDP52 CALHM1 612234 FAM26C CALM1 114180 CALML2, CAMI, PHKD, DD132 CALM2 114182 PHKD, CAMII CALM3 114183 PHKD CALR 109091 RO, SSA, cC1qR, CRT, FLJ26680 CALR3 611414 CRT2, FLJ25355, MGC26577, CT93 CALU 603420 CAMK2G 602123 CAMKG CAMTA1 611501 KIAA0833 CANT1 613165 SHAPY, SCAN-1 CAPN1 114220 muCANP, muCL, CANP, CANPL1 CAPN10 605286 CAPN3 114240 LGMD2, LGMD2A, CANP3, p94, nCL-1 CAPN5 602537 VRNI, nCL-3, HTRA3, ADNIV CARD11 607210 CARMA1, BIMP3 CARD14 607211 PSORS2, CARMA2, BIMP2 CARD8 609051 TUCAN, KIAA0955, CARDINAL, NDPP, Dakar CARD9 607212

Page 15 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases CARMIL2 610859 RLTPR, LRRC16C CARS2 612800 FLJ12118 CARTPT 602606 CART CASK 300172 TNRC8, LIN2, CAGH39, FGS4 CASP10 601762 MCH4 CASP14 605848 MICE, MGC119078, MGC119079 CASP2 600639 NEDD2, ICH1, PPP1R57, MGC2181 CASP7 601761 MCH3, CMH-1, ICE-LAP3 CASP8 601763 MCH5, MACH, FLICE, Casp-8 CASQ1 114250 CASQ, PDIB1 CASQ2 114251 PDIB2 CASR 601199 HHC, HHC1, FHH, NSHPT, GPRC2A CAST 114090 CAT 115500 CATSPER1 606389 CATSPER CAV1 601047 CAV CAV3 601253 VIP-21, LGMD1C, VIP21, LQT9 CAVIN1 603198 PTRF, cavin-1, CGL4 CAVIN4 617714 MURC, cavin-4 CBL 165360 CBL2, RNF55, c-Cbl CBLB 604491 RNF56, Cbl-b CBLC 608453 CBL-3, CBL-SL, RNF57 CBLIF 609342 GIF, TCN3, IF, IFMH, INF CBR3 603608 SDR21C2 CBS 613381 HIP4 NM_001321072.1: 1 CBX2 602770 CDCA6, MGC10561 CC2D1A 610055 FLJ20241, MRT3 CC2D2A 612013 KIAA1345, MKS6, JBTS9 CCBE1 612753 FLJ30681, KIAA1983 CCDC103 614677 FLJ13094, FLJ34211, PR46b, CILD17 CCDC114 615038 FLJ32926, CILD20 CCDC115 613734 MGC12981, FLJ30131, ccp1 CCDC141 616031 FLJ39502, CAMDI CCDC151 615956 MGC20983 CCDC170 C6orf97, FLJ23305, bA282P11.1 CCDC174 616735 C3orf19, FLJ33839 CCDC18 NY-SAR-41 CCDC22 300859 CXorf37, JM1 CCDC28B 610162 MGC1203, RP4-622L5.5 CCDC39 613798 DKFZp434A128, CILD14, FAP59 CCDC40 613799 FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172 CCDC50 611051 C3orf6, DFNA44, Ymer NYD-SP28, FLJ35732, FAP250, CFAP250, CCDC65 611088 CILD27, DRC2

Page 16 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases CCDC78 614666 C16orf25, FLJ34512 CCDC8 614145 DKFZp564K0322, 3M3, PPP1R20 CCDC88A 609736 KIAA1212, FLJ10392, APE, GIV, HkRP1, GRDN CCDC88C 611204 KIAA1509, DAPLE, HkRP2, SCA40 CCHCR1 605310 C6orf18, HCR CCL11 601156 SCYA11, eotaxin, MGC22554 SCYA2, MCP1, MCP-1, MCAF, SMC-CF, GDCF-2, CCL2 158105 HC11, MGC9434 CCL4 182284 LAG1, SCYA4, MIP-1-beta, Act-2, AT744.1 CCM2 607929 C7orf22, MGC4607, OSM CCN1 602369 IGFBP10, CYR61, GIG1 CCN2 121009 CTGF, IGFBP8 CCN6 603400 WISP3, WISP-3 CCNA2 123835 CCNA, CCN1 CCND1 168461 BCL1, D11S287E, PRAD1, U21B31 CCND2 123833 CCNF 600227 FBX1, FBXO1 CCNO 607752 CCNU, UDG2, FLJ22422, UNG2 CCNQ 300708 FAM58A CCR1 601159 SCYAR1, CMKBR1, CKR-1, MIP1aR, CD191 CCS 603864 CCT2 605139 Cctb CCT5 610150 KIAA0098 CCT7 605140 Ccth, Nip7-1 CD109 608859 FLJ38569, DKFZp762L1111, CPAMD7 CD151 602243 SFA-1, PETA-3, TSPAN24, RAPH CD164 603356 MUC-24, MGC-24, DFNA66 NM_020406.3: 4-9 CD177 162860 PRV1, HNA2A, NB1 CD19 107265 CD2 186990 SRBC CD207 604862 Langerin, CLEC4K CD247 186780 CD3Z, CD3H, CD3Q CD27 186711 TNFRSF7, S152, Tp55 CD2AP 604241 CMS CD320 606475 8D6, 8D6A CD33 159590 SIGLEC3, SIGLEC-3, p67, FLJ00391 CD36 173510 SCARB3, GPIV, FAT, GP4, GP3B CD3D 186790 T3D CD3E 186830 CD3G 186740 CD4 186940 CD40 109535 TNFRSF5, p50, Bp50 HIGM1, IMD3, TNFSF5, CD40L, TRAP, gp39, CD40LG 300386 hCD40L, CD154

Page 17 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases CD46 120920 MIC10, MCP, TRA2.10, MGC26544, TLX CD55 125240 DAF, CR, TC, CROM MIC11, MIN1, MSK21, MIN2, MIN3, 16.3A5, CD59 107271 EJ16, EJ30, EL32, G344, p18-20 CD70 602840 CD27LG, TNFSF7, CD27L CD79A 112205 IGA, MB-1 CD79B 147245 IGB, B29 CD81 186845 TAPA1, TAPA-1, TSPAN28 CD8A 186910 CD8 MXRA4, C1QR1, C1qRP, C1qR(P), dJ737E23.1, CD93 120577 CDw93, ECSM3 CD96 606037 TACTILE CDA 123920 CDD CDAN1 607465 CDA-I, CDAI CDC14A 603504 Cdc14A1, Cdc14A2, cdc14, DFNB105 NM_001791.3: 4-6 CDC42 NM_044472.2: 4-6 116952 G25K, CDC42Hs NM_001039802.1: 5-7 CDC45 603465 CDC45L2, CDC45L CDC5L 602868 PCDC5RP, hCDC5, CEF1, CDC5 CDC6 602627 CDC18L CDC73 607393 C1orf28, HRPT2, HRPT1, parafibromin, FIHP CDCA7 609937 FLJ14736, JPO1 CDCA7L 609685 RAM2, R1, JPO2 CDH1 192090 UVO, uvomorulin, CD324 CDH11 600023 OB, CAD11 CDH13 601364 CDHH CDH15 114019 CDH3, CDH14 CDH16 603118 CDH2 114020 NCAD, CDHN, CD325 CDH23 605516 DFNB12, USH1D, CDHR23 CDH3 114021 CDHP, PCAD CDHR1 609502 PCDH21, KIAA1775, CORD15, RP65 CDK13 603309 CDC2L5, CHED, CDC2L, KIAA1791 PCTK1, PCTAIRE, PCTAIRE1, PCTGAIRE, CDK16 311550 FLJ16665 CDK4 123829 PSK-J3 CDK5 123831 PSSALRE CDK5R1 603460 p35nck5a, Nck5a, p35 CDK5RAP2 608201 MCPH3, C48, FLJ10867, CEP215 CDK6 603368 PLSTIRE CDKL5 300203 STK9, EIEE2, CFAP247 CDKN1, P21, CIP1, WAF1, SDI1, CAP20, CDKN1A 116899 p21CIP1, p21Cip1/Waf1, p21 CDKN1B 600778 KIP1, P27KIP1

Page 18 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases CDKN1C 600856 BWCR, BWS, P57, KIP2 CDKN2, MLM, CDK4I, p16, INK4a, MTS1, CDKN2A 600160 CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf, p14ARF CDKN2B 600431 P15, MTS2, INK4B, TP15, CDK4I, p15INK4b CDKN2C 603369 INK4C, p18 CDON 608707 ORCAM, CDO, CDON1 CDSN 602593 D6S586E CDT1 605525 DUP, RIS2 CDX1 600746 CEACAM16 614591 DFNA4B CEBPA 116897 CEBP, C/EBP-alpha CEBPE 600749 CRP1 CEBPG 138972 GPE1BP, IG/EBP-1 NM_001807.4: 1, 8-9, 11 CEL 114840 BSSL, MODY8 CELSR1 604523 ME2, HFMI2, FMI2, CDHF9, ADGRC1 EGFL2, KIAA0279, MEGF3, Flamingo1, CDHF10, CELSR2 604265 ADGRC2 CELSR3 604264 EGFL1, MEGF2, HFMI1, FMI1, CDHF11, ADGRC3 CEMIP 608366 KIAA1199, IR2155535, TMEM2L, HYBID CENPE 117143 KIF10, PPP1R61 CENPF 600236 hcp-1 MCPH6, CPAP, BM032, LAP, LIP1, Sas-4, SASS4, CENPJ 609279 SCKL4 KIAA0562, GlyBP, RP1-286D6.4, CFAP256, CEP104 616690 ROC22, JBTS25 CEP120 613446 CCDC100, FLJ36090 CEP135 611423 KIAA0635, CEP4, FLJ13621 CEP152 613529 KIAA0912, SCKL5, MCPH9 CEP164 614848 KIAA1052, NPHP15 CEP19 615586 C3orf34, MGC14126 CEP250 609689 CEP2, C-NAP1 KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, CEP290 610142 JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3 CEP41 610523 TSGA14, DKFZp762H1311, FLJ22445, JBTS15 CEP57 607951 Translokin, TSP57, KIAA0092 CEP63 614724 FLJ13386 CEP78 617110 C9orf81, FLJ12643 CEP83 615847 CCDC41, NY-REN-58, NPHP18 CER1 603777 DAND4 CERKL 608381 RP26

Page 19 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases NM_021267.4: 1 CERS1 606919 LASS1, LAG1, UOG1 NM_198207.2: 1 CERS3 615276 LASS3, MGC27091 NM_001025194.1: 12-14 HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1 NM_001266.4: 12-14 114835 CES1A2 NM_001025195.1: 12-14 CETP 118470 BPIFF C21orf48, C21orf59, FLJ20467, FBB18, CILD26, CFAP298 615494 Kur CFAP410 603191 C21orf2, YF5, A2, LRRC76 CFAP53 614759 CCDC11, FLJ32743 CFB 138470 BFD, BF, H2-Bf CFD 134350 DF, PFD, ADN CFH 134370 HF, HF1, HF2, HUS, FHL1, ARMS1, ARMD4 NM_002113.2: 1 HFL1, CFHL1, CFHR1P, HFL2, CFHL1P, H36-1, CFHR1 134371 FHR1, CFHL, H36-2 NM_005666.3: 1 CFHR2 600889 HFL3, CFHL2, FHR2 NM_001312672.1: 1 NM_021023.5: 5 CFHR3 605336 CFHL3, FHR-3, HLF4, FHR3, DOWN16 NM_001166624.1: 4 NM_001201550.2: 9 CFHR4 NM_006684.4: 5 605337 CFHL4, FHR-4, FHR4 NM_001201551.1: 9 CFHR5 608593 CFHL5, FHR5, FHR-5 CFI 217030 IF, FI, C3b-INA, KAF CFL2 601443 NEM7 CFP 300383 PFC CF, ABCC7, MRP7, ABC35, TNR-CFTR, CFTR 602421 dJ760C5.1, CFTR/MRP CH25H 604551 CAF1P60, CAF-1, CAF1, CAF1A, MPP7, CHAF1B 601245 MPHOSPH7 CHAMP1 616327 C13orf8, ZNF828, CAMP, CHAMP CHAT 118490 CHCHD10 615903 C22orf16, N27C7-4, MIX17A CHCHD2 616244 C7orf17, MIX17B, MNRR1 CHD1L 613039 ALC1 FLJ38614, DKFZp547I1315, DKFZp781D1727, CHD2 602119 DKFZp686E01200 CHD4 603277 Mi-2b, Mi2-BETA CHD7 608892 CRG, KIAA1416, FLJ20357, FLJ20361 CHD8 610528 HELSNF1, KIAA1564, DUPLIN RAD53, CDS1, CHK2, HuCds1, PP1425, CHEK2 604373 NM_001005735.1: 3 bA444G7 CHGB 118920 SCG1, SgI CHIT1 600031 CHIT, CHI3

Page 20 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases CHKB 612395 CHKL, CHETK CHM 300390 TCD, DXS540, REP-1 NM_001145414.3: 5 CHMP1A 164010 PRSM1, PCOLN3, KIAA0047, CHMP1, Vps46A CHMP2B 609512 DKFZP564O123, CHMP2.5, VPS2B CHMP4B 610897 C20orf178, dJ553F4.4, Shax1, SNF7-2, VPS32B

CHN1 118423 CHN, DURS2, RhoGAP2, ARHGAP2, n-chimerin CHRDL1 300350 MGC1, NRLN1, CHL CHRM2 118493 CHRM3 118494 CHRNA1 100690 CHRNA CHRNA2 118502 CHRNA3 118503 CHRNA4 118504 EBN, EBN1, BFNC NM_000746.5: 5-10 CHRNA7 118511 NM_001190455.2: 5-10 CHRNB1 100710 CHRNB CHRNB2 118507 CHRND 100720 ACHRD CHRNE 100725 ACHRE CHRNG 100730 ACHRG CHST14 608429 D4ST1, HD4ST, D4ST-1 CHST3 603799 C6ST, C6ST1 CHST6 605294 MCDC1 CHST8 610190 GALNAC-4-ST1 CHSY1 608183 KIAA0990, CSS1 CHUK 600664 TCF16, IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA CIAO1 604333 WDR39, CIA1 CIB2 605564 DFNB48, USH1J, KIP2 CIC 612082 KIAA0306 CIDEC 612120 CIDE-3, FLJ20871, Fsp27 CIITA 600005 MHC2TA, C2TA, NLRA CISD2 611507 ZCD2, WFS2, Miner1, ERIS, NAF-1 CIT 605629 KIAA0949, STK21, CRIK, CITK CITED2 602937 MRG1 CIZ1 611420 LSFR1, ZNF356 CKAP2L 616174 FLJ40629, radmis CKM 123310 CKMM CKMT2 123295 SMTCK CLCA2 604003 CLCRG2 CLCF1 607672 NNT1, BSF3, CLC, NR6, CISS2, BSF-3, NNT-1

Page 21 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases CLCN1 118425 CLC1, ClC-1 CLCN2 600570 CLC2, EJM6, ClC-2 CLCN4 302910 CLC4, ClC-4 NPHL2, NPHL1, DENTS, XLRH, hClC-K2, hCIC-K2, CLCN5 300008 CLC5, XRN, ClC-5 CLCN7 602727 CLC-7, OPTA2, CLC7, ClC-7, PPP1R63 NM_004070.3: 9 CLCNKA NM_001042704.1: 9 602024 hClC-Ka NM_001257139.1: 8 NM_000085.4: 9 CLCNKB 602023 hClC-Kb NM_001165945.2: 2 CLDN1 603718 SEMP1, ILVASC CLDN14 605608 DFNB29 CLDN16 603959 PCLN1, HOMG3 CLDN19 610036 CLEC16A 611303 KIAA0350, Gop-1 CLEC4C 606677 CLECSF11, CLECSF7, HECL, DLEC, BDCA2, CD303

CLEC7A 606264 CLECSF12, dectin-1, hDectin-1, CD369, SCARE2 CLHC1 C2orf63, FLJ31438 CLIC2 300138 XAP121 CLIC5 607293 DFNB102 CLIP1 179838 RSN, CYLN1, CLIP170, CLIP, CLIP-170 CLMP 611693 ASAM, FLJ22415, ACAM CLN3 607042 BTS, JNCL, BTN1 CLN5 608102 CLN6 606725 FLJ20561, HsT18960, nclf CLN8 607837 EPMR, C8orf61, FLJ39417 CLP1 608757 HEAB, hClp1 CLPB 616254 HSP78, SKD3, FLJ13152, ANKCLB CLPP 601119 CLRN1 606397 USH3, USH3A, RP61 NM_001009566.2: 1 CLSTN1 NM_001302883.1: 1 611321 CSTN1, KIAA0911, CDHR12 NM_014944.4: 1 CLTC 118955 CLTCL2, Hc CLI, APOJ, SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU 185430 CLU2 CLUAP1 616787 FLJ13297, KIAA0643, FAP22, CFAP22, IFT38 CMYA5 612193 C5orf10, SPRYD2, DKFZp451G223, TRIM76 CNBP 116955 DM2, ZNF9, RNF163, ZCCHC22, CNBP1 CNGA1 123825 CNCG1, CNCG, RCNC1, RCNCa, CNG1, RP49 NM_001142564.1: 2 CNCA1, CNCA, CNG2, OCNC1, OCNCa, CNGA2 300338 OCNCALPHA, OCNCalpha, FLJ46312

Page 22 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases CNGA3 600053 CNCG3, ACHM2, CCNC1, CCNCa, CNG3 CNCG2, CNCG3L, RCNC2, RCNCb, GARP, GAR1, CNGB1 600724 CNGB1B, RP45 CNGB3 605080 ACHM3, ACHM1, RMCH CNKSR2 300724 KIAA0902, CNK2, KSR2 CNNM1 607802 ACDP1 CNNM2 607803 ACDP2 CNNM4 607805 ACDP4, KIAA1592 CNR1 114610 CNR, CB1K5, CB-R, CB1, CANN6, CB1A CNTN1 600016 F3, GP135 CNTN2 190197 TAX, AXT, TAG-1, TAX1 CNTN3 601325 PANG, BIG-1 CNTN4 607280 BIG-2 CNTN6 607220 NB-3 CNTNAP1 602346 NRXN4, p190, Caspr, CNTNAP CNTNAP2 604569 Caspr2, KIAA0868, NRXN4 CNTNAP5 610519 caspr5, FLJ31966 CNTROB 611425 LIP8, PP1221 COA3 614775 CCDC56, HSPC009, MITRAC12, COX25 COA5 613920 C2orf64, MGC52110, FLJ27524, Pet191 COA6 614772 C1orf31 COASY 609855 DPCK, NBP, CoASY, PPAT COCH 603196 DFNA31, DFNA9, COCH-5B2 COG1 606973 LDLB, KIAA1381 COG2 606974 LDLC COG4 606976 COD1, DKFZP586E1519 COG5 606821 GOLTC1, GTC90 COG6 606977 COD2, KIAA1134 COG7 606978 COG8 606979 FLJ22315, DOR1 COL10A1 120110 COL11A1 120280 COLL6, STL2, CO11A1 COL11A2 120290 DFNA13, DFNB53, HKE5 COL12A1 120320 COL12A1L COL13A1 120350 COL14A1 120324 UND COL17A1 113811 BPAG2, BP180 COL18A1 120328 KNO, KS, KNO1 COL1A1 120150 OI4 COL1A2 120160 OI4 COL22A1 610026 COL25A1 610004 COL27A1 608461 KIAA1870, MGC11337, FLJ11895 COL2A1 120140 SEDC, AOM, STL1 COL3A1 120180 EDS4A COL4A1 120130

Page 23 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases COL4A2 120090 FLJ22259, DKFZp686I14213 COL4A3 120070 COL4A3BP 604677 GPBP, STARD11, CERT COL4A4 120131 CA44 COL4A5 303630 ASLN, ATS COL4A6 303631 NM_000093.4: 1 COL5A1 120215 NM_001278074.1: 1 COL5A2 120190 COL6A1 120220 COL6A2 120240 COL6A3 120250 COL6A6 616613 COL7A1 120120 EBDCT, EBD1, EBR1 COL8A2 120252 FECD, PPCD, FECD1, PPCD2 COL9A1 120210 COL9A2 120260 EDM2, MED COL9A3 120270 IDD, MED, EDM3, FLJ90759, DJ885L7.4.1 COLEC11 612502 MGC3279, CL-K1 COLQ 603033 EAD COMP 600310 PSACH, EDM1, EPD1, MED, THBS5 COMT 116790 COPA 601924 HEP-COP COQ2 609825 CL640, FLJ26072 COQ4 612898 CGI-92 COQ5 616359 MGC4767 COQ6 614647 CGI-10 COQ7 601683 CLK-1, CAT5 COQ8A 606980 CABC1, ADCK3, COQ8, SCAR9 COQ8B 615567 ADCK4, FLJ12229, COQ8 COQ9 612837 C16orf49, DKFZP434K046 CORIN 605236 PRSC, CRN, ATC2, Lrp4, TMPRSS10 NM_007074.3: 10-11 CORO1A 605000 HCORO1, p57, coronin-1 NM_001193333.2: 11-12 NM_001303.3: 6 COX10 602125 COX14 614478 C12orf62, MGC14288 COX15 603646 CEMCOX2 NM_198076.5: 3 NM_001312872.1: 4 COX20 NM_001312873.1: 2 614698 FAM36A, FLJ43269 NM_001312874.1: 3 NM_001312871.1: 4 COX4I2 607976 COX4L2, COXIV-2, COX4B, dJ857M17.2, COX4-2 COX6A1 602072 COX6A

Page 24 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases COX6B1 124089 COX6B, COXG COX7B 300885 COX8A 123870 COX8, COX8-2, COX8L, VIII-L, COX, VIII CP 117700 CPA1 114850 CPA CPA6 609562 CPAH NM_015692.2: 8, 11 CPAMD8 608841 KIAA1283, VIP, K-CAP CPB2 603101 CPU, PCPB, TAFI CPLANE1 614571 C5orf42, FLJ13231, JBTS17, Hug CPN1 603103 CPOX 612732 CPO, CPX, HCP CPS1 608307 CPT1A 600528 CPT1, CPT1-L, L-CPT1 CPT1B 601987 M-CPT1, CPT1-M NM_001136052.2: 6-7 NM_001199752.2: 6-7 CPT1C 608846 FLJ23809, CPTIC, CPT1P NM_001199753.1: 6-7 NM_152359.2: 5-6 CPT2 600650 CPT1, CPTASE NM_000651.4: 5-23, 26-27, 29 CR1 120620 CD35, KN NM_000573.3: 5-15, 18-19, 21 CR2 120650 CD21, C3DR CRADD 603454 RAIDD CRB1 604210 RP12, LCA8 CRB2 609720 FLJ38464, FLJ16786 CRBN 609262 MRT2A, MRT2 CREB1 123810 CREB3 606443 LZIP, Luman, sLZIP CREB3L1 616215 OASIS CREB3L3 611998 CREB-H CREBBP 600140 RSTS, RTS, CBP, KAT3A CRELD1 607170 AVSD2 CRH 122560 CRF, CRH1 CRHR1 122561 CRHR, CRF-R, CRF1 CRHR2 602034 CRF2, CRF-RB, HM-CRF CRIPT 604594 HSPC139 CRKL 602007 NM_004750.4: 1 CRLF1 604237 CLF-1, CLF, CISS, CISS1 CRMP1 602462 DRP-1, DPYSL1 CRP 123260 PTX1 CRTAP 605497 CASP, LEPREL3, P3H5 CRTC1 607536 MECT1, KIAA0616, FLJ14027, TORC1 CRX 602225 CORD2, CRD, LCA7, OTX3 CRY2 603732

Page 25 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases CRYAA 123580 CRYA1, HSPB4 CRYAB 123590 CRYA2, HSPB5 CRYBA1 123610 CRYB1 CRYBA2 600836 CRYBA4 123631 CRYBB1 600929 NM_000496.2: 5 CRYBB2 123620 CCA2, CRYB2A, CRYB2 CRYBB3 123630 CRYB3 CRYGB 123670 CRYG2 CRYGC 123680 CRYG3 CRYGD 123690 CRYG4 CRYGS 123730 CRYG8 CRYL1 609877 GDH, lambda-CRY, MGC149525, MGC149526 CRYM 123740 DFNA40 CSF1R 164770 FMS, C-FMS, CSFR, CD115 NM_006140.4: 3-13 NM_172249.2: 3-8 306250 CSF2RA CSF2R, CD116, alphaGMR NM_172246.2: 3-11 425000 NM_001161530.1: 1-12 CSF2RB 138981 IL3RB, IL5RB, CD131, betaGMR CSF3R 138971 CD114, GCSFR CSNK1D 600864 HCKID, CKID, CKIdelta CSNK2A1 115440 Cka1, Cka2 CSPP1 611654 FLJ22490, CSPP, JBTS21 CSRP3 600824 CLP, MLP, CMD1M CST3 604312 CSTA 184600 STF1, STFA CSTB 601145 EPM1, STFB, CST6, PME CTBP1 602618 BARS CTC1 613129 C17orf68, FLJ22170, AAF132 CTCF 604167 CTDP1 604927 FCP1 CTF1 600435 CT-1, CT1 CTH 607657 CTHRC1 610635 CTLA4 123890 CELIAC3, IDDM12, CD152, CD, GSE, CTLA-4 CTNNA1 116805 CAP102 CTNNA3 607667 VR22, MGC26194 CTNNB1 116806 CTNNB, beta-catenin, armadillo NM_001332.3: 7 CTNND2 604275 NPRAP, GT24 NM_001288715.1: 6 CTNS 606272 CTNS-LSB, PQLC4, SLC66A4 CTPS1 123860 CTPS, GATD5 CTR9 609366 SH2BP1, KIAA0155, TSBP, p150TSP

Page 26 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases CTRC 601405 CLCR, ELA4 CTSA 613111 GSL, PPGB CTSB 116810 CTSC 602365 PLS, PALS, DPP1 CTSD 116840 CPSD, CLN10 CTSF 603539 CATSF, CLN13 CTSH 116820 CPSB, ACC-4, ACC-5, ACC4, ACC5 CTSK 601105 CTSO2, CTSO, PYCD, PKND CUBN 602997 MGA1, IFCR, gp280 CUL3 603136 CUL4B 300304 CUL7 609577 KIAA0076, dJ20C7.5 CUX2 610648 CUTL2, KIAA0293, CDP2 CWC27 617170 SDCCAG10, NY-CO-10, SDCCAG-10 CWF19L1 616120 FLJ10998, hDrn1 CX3CR1 601470 GPR13, CMKBRL1, CMKDR1, V28, CCRL1 CXCR1 146929 CMKAR1, IL8RA, CKR-1, CDw128a, CD181 CXCR2 146928 IL8RB, CMKAR2, CD182 CXCR3 300574 GPR9, CKR-L2, CMKAR3, IP10-R, MigR, CD183 LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, CXCR4 162643 HSY3RR, NPYR, CD184 CXXC5 612752 HSPC195, RINF, WID CYB5A 613218 CYB5 CYB5R1 608341 NQO3A2, humb5R2 CYB5R2 608342 CYB5R3 613213 DIA1 CYB5R4 608343 NCB5OR, b5+b5R, dJ676J13.1 CYBA 608508 p22-PHOX CYBB 300481 CGD, GP91-PHOX, NOX2 CYBRD1 605745 DCYTB, FLJ23462, FRRS3, CYB561A2 CYC1 123980 UQCR4 CYCS 123970 HCS, CYC CYLD 605018 CYLD1, KIAA0849, USPL2 CYP11A1 118485 CYP11A, P450SCC CYP11B1 610613 CYP11B, P450C11, FHI, CPN1 CYP11B, CYP11BL, CPN2, P-450C18, P450aldo, CYP11B2 124080 ALDOS CYP17A1 609300 CYP17, P450C17, CPT7, S17AH CYP19, ARO, P-450AROM, CPV1, ARO1, CYAR, CYP19A1 107910 aromatase CYP1A2 124060 P3-450, CP12 CYP1B1 601771 GLC3A, CP1B CYP24A1 126065 CYP24, CP24, P450-CC24 CYP26B1 605207 P450RAI-2 CYP26C1 608428

Page 27 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases CYP27A1 606530 CYP27, CTX, CP27 CYP27B1 609506 VDD1, PDDR, CYP1, P450c1 NM_000762.5: 9 CYP2A6 122720 CYP2A3, CPA6, CYP2A NM_000767.4: 2 CYP2B6 123930 CYP2B, CPB6, CYPIIB6 CYP2C19 124020 CYP2C, P450IIC19, CPCJ CYP2C8 601129 CPC8 CYP2C9 601130 CYP2C10, P450IIC9 NM_000106.5: 2, 8-9 CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D6 124030 NM_001025161.2: 2, 7-8 CYP2D7AP, CPD6, P450-DB1, CYP2D, P450C2D CYP2R1 608713 CYP2U1 610670 SPG49 CYP3A4 124010 CYP3A3 CYP3A43 606534 CYP3A5 605325 PCN3, P450PCN3, CP35 CYP3A7 605340 CP37, P450-HFLA CYP46A1 604087 CYP46 CYP4F2 604426 CYP4F22 611495 FLJ39501 CYP4V2 608614 CYP4AH1 CYP51A1 601637 CYP51, CP51, CYPL1, P450L1, LDM, P450-14DM CYP7A1 118455 CYP7 CYP7B1 603711 SPG5A D2HGDH 609186 MGC25181, D2HGD, FLJ42195 DAB2IP 609205 AF9Q34, DIP1/2, KIAA1743, AIP1 DACT1 607861 DAPPER1, THYEX3, HDPR1, DAPPER, FRODO DAG1 128239 A3a, 156DAG, AGRNR, DAG DAO 124050 DAMOX, DAAO DAPK1 600831 DAPK, ROCO3 DAPK3 603289 ZIP, ZIPK DARS 603084 DARS2 610956 FLJ10514 DAZL 601486 DAZLA, DAZH, SPGYLA, MGC26406, DAZL1 DBH 609312 DBM DBT 248610 DCAF17 612515 C2orf37, FLJ13096 DCAF8 615820 WDR42A, H326, FLJ35857 DCC 120470 IGDCC1, NTN1R1 DCDC1 608062 DCDC5, FLJ46154 DCDC2 605755 DFNB66, RU2, KIAA1154, DCDC2A, NPHP19

Page 28 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases CDH25, PCDH16, FIB1, KIAA1773, FLJ11790, DCHS1 603057 CDHR6 CDH27, PCDH23, CDHJ, FLJ20047, PCDHJ, DCHS2 612486 CDHR7 DCLRE1B 609683 SNM1B, FLJ12810, FLJ13998, APOLLO DCLRE1C 605988 SCIDA, ARTEMIS, FLJ11360, SNM1C, A-SCID DCN 125255 DSPG2, SLRR1B DCPS 610534 HSPC015, HINT-5, HSL1 DCSTAMP 605933 TM7SF4, DC-STAMP, FIND DCTN1 601143 DCX 300121 SCLH, DC, LISX, DBCN, XLIS DCXR 608347 KIDCR, DCR, SDR20C1 DDB2 600811 DDBB, UV-DDB2, FLJ34321, XPE DDC 107930 AADC DDHD1 614603 SPG28, KIAA1705, PA-PLA1 DDHD2 615003 SAMWD1, KIAA0725, SPG54 DDIT4 607729 RTP801, FLJ20500, REDD-1, REDD1, Dig2 DDOST 602202 OST, KIAA0115, OST48, WBP1, GATD6 DDR2 191311 TYRO10, NTRKR3, TKT DDRGK1 616177 C20orf116, dJ1187M17.3, UFBP1 DDX24 606181 DDX3X 300160 DDX3, DBX, HLP2, DDX14 DDX41 608170 ABS, MGC8828 DDX58 609631 RIG-I, FLJ13599, DKFZp434J1111, RIG-1 DDX59 615464 DKFZP564B1023, ZNHIT5 DEAF1 602635 NUDR, SPN, ZMYND5 DECR1 222745 DECR, SDR18C1 DEFA4 601157 DEF4, HP-4 DENR 604550 DRP, DRP1, SMAP-3 DEPDC5 614191 KIAA0645, DEP.5 DES 125660 CMD1I, CSM1, CSM2 DGAT1 604900 DGAT, ARGP1 DGAT2 606983 DGAT2L6 300926 DC3, FLJ25989 DGKE 601440 DAGK6, DGK DGUOK 601465 dGK DHCR24 606418 DCE, KIAA0018, seladin-1 DHCR7 602858 SLOS DHDDS 608172 HDS, FLJ13102, DS, RP59 NM_000791.3: 6 DHFR NM_001290354.1: 5 126060 NM_001290357.1: 5 DHH 605423 HHG-3, MGC35145 DHODH 126064

Page 29 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases

DHTKD1 614984 KIAA1630, MGC3090, DKFZP762M115, CMT2Q NM_014681.5: 7 DHX34 615475 DDX34, KIAA0134 DHX38 605584 DDX38, PRP16, KIAA0224, hPrp16, PRPF16 DIABLO 605219 SMAC, DIABLO-S, FLJ25049, FLJ10537, DFNA64 DIAPH1 602121 DFNA1, hDIA1, LFHL1 DIAPH2 300108 POF, DIA, POF2, DIA2 DIAPH3 614567 AUNA1, DRF3, FLJ34705, AN, NSDAN DICER1 606241 MNG1, Dicer, KIAA0928, K12H4.8-LIKE, HERNA DIP2B 611379 KIAA1463, FLJ34278 DIS3L2 614184 FAM6A, FLJ36974, MGC42174 DISC1 605210 DISPA, MGC13130, DKFZP434I0428, DISP1 607502 MGC16796 DKC1 300126 DKC, XAP101, dyskerin, NAP57, NOLA4, Cbf5 DLAT 608770 DLTA, PDC-E2 DLC1 604258 HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP DLD 238331 LAD, GCSL, DLDH DLG2 603583 PSD-93, PSD93, chapsyn-110, PPP1R58 NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, DLG3 300189 MRX90, PPP1R82 DLG4 602887 PSD-95, PSD95, SAP90, SAP-90 DLGAP2 605438 ERICH1-AS1, C8orf68, DAP-2 DLGAP3 611413 SAPAP3, DAP3 DLL1 606582 DLL3 602768 SCDO1 DLL4 605185 DLX3 600525 DLX4 601911 DLX7, DLX9, DLX8, BP1 DLX5 600028 DLX6 600030 DMBX1 607410 OTX3, PAXB DMC1 602721 LIM15 MRX85, BMD, DXS142, DXS164, DXS206, DMD 300377 DXS230, DXS239, DXS268, DXS269, DXS270, DXS272 DMGDH 605849 DMP1 600980 DMPK 605377 DM1, DM, DMK, DM1PK, MDPK, MT-PK DMRT1 602424 DMT1, CT154 DMRTA2 614804

Page 30 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases DMXL2 612186 RC3, KIAA0856, DFNA71 DNA2 601810 DNA2L, KIAA0083 DNAAF1 613190 LRRC50, FLJ25330, ODA7, CILD13, swt DNAAF2 612517 C14orf104, FLJ10563, KTU, PF13, CILD10 C19orf51, CILD2, FLJ40069, FLJ36139, PF22, DNAAF3 614566 PCD DNAAF4 608706 DYX1C1, EKN1, FLJ37882, CILD25 HEATR2, FLJ20397, FLJ31671, FLJ39381, DNAAF5 614864 FLJ25564, CILD18 DNAH1 603332 XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11 DNAH10 605884 FLJ43808 Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNAH11 603339 DNHBL C1orf67, Dnahc14, HL-18, HL18, DNAH14 603341 DKFZp781B1548, MGC27277 DNAH5 603335 Dnahc5, HL1, PCD, CILD3, KTGNR DNAH6 603336 DNHL1, Dnahc6, HL-2, FLJ37357 DNAH8 603337 hdhc9 DNAI1 604366 DIC1, PCD, CILD1 DNAI2 605483 CILD9, DIC2 DNAJB13 610263 TSARG6, RSPH16A DNAJB2 604139 HSJ1, HSPF3, CMT2T DNAJB6 611332 LGMD1D, MRJ DNAJC13 614334 RME8, KIAA0678 DNAJC17 616844 FLJ10634 DNAJC19 608977 TIMM14, Tim14, Pam18 DNAJC21 617048 GS3, DNAJA5, JJJ1 DNAJC3 601184 PRKRI, P58, P58IPK, HP58, ERdj6 DNAJC5 611203 CLN4, FLJ00118, FLJ13070, DNAJC5A DNAJC6 608375 KIAA0473, PARK19 C14orf168, MGC12435, 1700010H15RiK, DNAL1 610062 CILD16 DNAL4 610565 dJ327J16, PIG27 DNASE1 125505 DNL1 DNASE1L3 602244 DNAS1L3, LSD NM_194249.2: 4 DND1 609385 MGC34750, RBMS4 DNM1 602377 DNM DNM1L 603850 DRP1, DVLP, HDYNIV, DYMPLE, VPS1 DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB, DNM2 602378 CMT2M NM_001130823.2: 5 DNMT1 126375 DNMT, MCMT, CXXC9 NM_001318731.1: 5 DNMT3A 602769 DNMT3B 602900 DOCK2 603122 KIAA0209

Page 31 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases DOCK6 614194 KIAA1395, ZIR1 DOCK7 615730 KIAA1771, ZIR2 DOCK8 611432 FLJ00026, FLJ00152, ZIR8, FLJ00346 DOK7 610285 C4orf25, FLJ33718, FLJ39137, Dok-7 DOLK 610746 TMEM15, KIAA1094, DK1 DONSON 611428 C21orf60, B17, C2TA, DKFZP434M035 DPAGT2, DPAGT, GPT, D11S366, DGPT, ALG7, DPAGT1 191350 CDG-Ij DPH1 603527 DPH2L, DPH2L1, OVCA1 DPM1 603503 MPDS, CDGIE DPM2 603564 MGC21559, MGC111193 DPM3 605951 MGC34275, MGC125904, MGC125905

DPP6 NM_001290253.1: 1 126141 DPPX, DPL1 NM_130797.3: 1 NM_173812.4: 5, 9-10, 12 DPY19L2 613893 FLJ32949, SPATA34 DPYD 612779 DPD DPYS 613326 DHPase TMEM77, MGC54289, PRO180, WWFQ154, DRAM2 613360 RP5-1180E21.1 C2orf39, CCDC164, MGC16372, FLJ32660, DRC1 615288 CILD21 DRD1 126449 DRD2 126450 DRD3 126451 DRD4 126452 DRD5 126453 DRD1L2, DRD1B DROSHA 608828 RNASEN, RNASE3L, Etohi2, HSA242976, RN3 DRP2 300052 DSC2 125645 DSC3, CDHF2 DSC3 600271 DSC4, CDHF3, DSC, DSC1, DSC2 DSE 605942 SART2, DSEPI, DS-Epi1 DSG1 125670 DSG, CDHF4 DSG2 125671 CDHF5 DSG3 169615 CDHF6 DSG4 607892 CDHF13, LAH DSP 125647 KPPS2, PPKS2, DPI, DPII DSPP 125485 DFNA39, DGI1, DMP3 BPAG1, BP240, KIAA0728, FLJ21489, FLJ13425, DST 113810 FLJ32235, FLJ30627, CATX-15, BPA, MACF2 DSTYK 612666 RIPK5, KIAA0472, DustyPK, RIP5

Page 32 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases

NM_001318043.1: 5 C20orf88, HARS2, DUEB, MGC119131, DTD1 610996 MGC41905, bA379J5.3, bA555E18.1, pqn-68 DTHD1 616979 FLJ16686 DTNA 601239 D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3 DTNBP1 607145 Dysbindin, My031, HPS7, DBND, BLOC1S8 NM_014080.4: 6-7 DUOX2 606759 P138-TOX, P138(TOX), THOX2, LNOX2 DUOXA2 612772 DUSP1 600714 PTPN10, HVH1, CL100, MKP-1 DUSP16 607175 MKP-7, KIAA1700, MKP7 DUSP2 603068 PAC-1 DUSP3 600183 VHR DUSP4 602747 HVH2, MKP-2, TYP DUSP5 603069 HVH3 DUSP6 602748 MKP-3, PYST1 DUSP7 602749 MKP-X, PYST2 DUSP8 602038 C11orf81, HVH-5, HB5, FLJ42958 DVL1 601365 DVL2 602151 DVL3 601368 KIAA0208 DXO 605996 DOM3Z DYM 607461 FLJ20071, DMC, SMC DNECL, DNCL, DNCH1, Dnchc1, HL-3, p22, DYNC1H1 600112 DHC1, CMT2O DYNC2H1 603297 DNCH2, hdhc11, DHC2, DHC1b, DYH1B DYNC2LI1 617083 D2LIC, LIC3, CGI-60, DKFZP564A033 DYRK1A 600855 DYRK1, DYRK, MNBH DYRK1B 604556 MIRK DYSF 603009 LGMD2B, FER1L1 E2F1 189971 RBBP3, RBP3 EARS2 612799 KIAA1970, MSE1 EBF3 607407 COE3, DKFZp667B0210 EBP 300205 CDPX2, CPX, CPXD, CHO2 ECE1 600423 ECE ECEL1 605896 XCE, DINE ECHS1 602292 SCEH ECI1 600305 DCI ECM1 602201 ED1, EDA2, ODT1, EDA1, XLHED, HED, XHED, EDA 300451 ED1-A1, ED1-A2, EDA-A1, EDA-A2 EDA2R 300276 XEDAR, EDA-A2R, EDAA2R, TNFRSF27 EDAR 604095 ED3, DL, ED5, EDA3, Edar, ED1R, EDA1R EDARADD 606603

Page 33 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases YJDC, FLJ21128, hYjeF_N2-15q23, YJEFN2, EDC3 609842 LSM16 EDN1 131240 ET1 EDN3 131242 ET3 EDNRA 131243 ET-A, ETA-R, hET-AR EDNRB 131244 HSCR2, HSCR, ETB EED 605984 WAIT-1, HEED EEF1A2 602959 STNL, STN, EEF1AL, HS1 EEF2 130610 EF2, EEF-2 EFCAB13 C17orf57, FLJ40342 EFEMP1 601548 DHRD, FBNL, S1-5, FBLN3, MTLV EFEMP2 604633 FBLN4, UPH1 EFHC1 608815 EJM1, EJM, FLJ10466 EFHC2 300817 MRX74, FLJ22843 EFNA4 601380 EPLG4, LERK4 EFNA5 601535 EPLG7, AF1, LERK7 EFNB1 300035 EPLG2, CFNS, LERK2, Elk-L EFTUD2 603892 U5-116KD, Snrp116, Snu114, SNRNP116 EGF 131530 EGFR 131550 ERBB, ERBB1 EGLN1 606425 C1orf12, SM-20, PHD2, ZMYND6, HIFPH2 EGLN2 606424 PHD1, HIFPH1 EGR2 129010 KROX20 EHBP1 609922 KIAA0903, NACSIN EHHADH 607037 ECHD NM_024757.4: 1 EHMT1-IT1, Eu-HMTase1, FLJ12879, KIAA1876, EHMT1 607001 NM_001145527.1: 1 bA188C12.1, KMT1D, FLJ40292 EIF2AK3 604032 PEK, PERK EIF2AK4 609280 GCN2, KIAA1338 EIF2B1 606686 EIF2B, EIF-2Balpha, EIF-2B, EIF2BA EIF2B2 606454 EIF2B, EIF-2Bbeta EIF2B3 606273 EIF2Bgamma, EIF-2B EIF2B4 606687 EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2B EIF2B5 603945 EIF2Bepsilon, EIF-2B EIF2S3 300161 EIF2G, EIF2gamma, EIF2 EIF4A3 608546 DDX48, KIAA0111, EIF4AIII, Fal1 NM_001130679.2: 8 NM_001130678.2: 7 EIF4E 133440 EIF4EL1, EIF4F, EIF4E1 NM_001331017.1: 8 NM_001968.4: 7 EIF4ENIF1 607445 4E-T, FLJ21601, Clast4, 2610509L04Rik EIF4G1 600495 EIF4G, EIF4F, p220, PARK18 ELAC2 605367 FLJ10530, HPC2 ELANE 130130 ELA2, NE, HNE, HLE ELF4 300775 MEF, ELFR ELK1 311040

Page 34 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases ELK3 600247 ERP, NET, SAP2 ELK4 600246 SAP1 ELMO2 606421 CED12, ELMO-2, CED-12, KIAA1834, FLJ11656 ELMOD2 610196 MGC10084 ELMOD3 615427 RBM29, RBED1, DFNB88, FLJ21977 ELN 130160 WBS, WS, SVAS ELOVL4 605512 STGD2, STGD3, SCA34, CT118 ELOVL5 611805 SCA38, HELO1, dJ483K16.1 ELP1 603722 DYS, IKBKAP, IKAP, TOT1, IKI3 ELP2 616054 STATIP1, FLJ10879, StIP ELP4 606985 C11orf19, PAXNEB EMC1 616846 KIAA0090 EMD 300384 STA, LEMD5 EMG1 611531 C2F, NEP1, Grcc2f EMILIN1 130660 DKFZp586M121, gp115 EML1 602033 EMAPL, EMAP, HuEMAP, ELP79 EMP2 602334 XMP EMX2 600035 EN2 131310 ENAM 606585 AIH2 ENG 131195 ORW1, ORW, END, HHT1, CD105 ENHO C9orf165, UNQ470 ENO3 131370 NM_006208.2: 1 ENPP1 173335 NPPS, M6S1, PDNP1, PC-1, PCA1 ENTPD1 601752 CD39, NTPDase-1, ATPDase, SPG64 EOGT 614789 C3orf64, AER61, FLJ33770 EOMES 604615 TBR2 EP300 602700 p300, KAT3B EPAS1 603349 MOP2, PASD2, HIF2A, HLF, bHLHe73 EPB41 130500 EL1, 4.1R EPB41L1 602879 KIAA0338, 4.1N EPB41L4A 612141 NBL4 EPB42 177070 PA, MGC116735, MGC116737 M4S1, MIC18, TACSTD1, Ly74, TROP1, GA733- 2, EGP34, EGP40, EGP-2, KSA, CD326, Ep-CAM, EPCAM 185535 HEA125, KS1/4, MK-1, MH99, MOC31, 323/A3, 17-1A, TACST-1, CO-17A, ESA EPG5 615068 KIAA1632, hEPG5 EPHA1 179610 EPHT, EPHT1, EPH EPHA2 176946 ECK EPHA4 602188 TYRO1, Hek8 EPHA5 600004 Hek7, TYRO4, CEK7, EHK1 EPHA6 600066 FLJ35246

Page 35 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases EPHB2 600997 DRT, ERK, EPHT3, Hek5, Tyro5 EPHB4 600011 HTK, Tyro11 EPHX1 132810 EPHX EPHX2 132811 EPM2A 607566 LDE, LD EPO 133170 EP EPOR 133171 EPRS 138295 QPRS, QARS, EARS, PARS, GLUPRORS EPS8 600206 EPS8L2 614988 FLJ21935, FLJ22171, MGC3088 EPS8L3 614989 FLJ21522, MGC16817 EPX 131399 EPO, EPP, EPX-PEN ERBB2 164870 NGL, NEU, HER-2, CD340, HER2 ERBB3 190151 LCCS2, HER3 ERBB4 600543 ALS19, HER4 ERBIN 606944 ERBB2IP, LAP2 ERCC1 126380 RAD10 XPD, MAG, EM9, MGC102762, MGC126218, ERCC2 126340 MGC126219, TFIIH ERCC3 133510 XPB, BTF2, RAD25, TFIIH, GTF2H ERCC4 133520 XPF, RAD1, FANCQ ERCC5 133530 ERCM2, XPGC ERCC6 609413 CKN2, CSB, RAD26, ARMD5 ERCC6L2 615667 C9orf102, FLJ37706, RAD26L ERCC8 609412 CKN1, CSA ERF 611888 PE-2, PE2 ERLIN1 611604 C10orf69, SPFH1, KE04, Erlin-1, SPG62 ERLIN2 611605 C8orf2, SPFH2, SPG18, NET32, Erlin-2 ERMAP 609017 RD, SC, BTN5 ERMARD 615532 C6orf70, FLJ11152, dJ266L20.3 ERMP1 611156 KIAA1815, FLJ23309, FXNA ESCO2 609353 RBS, EFO2 ESPN 606351 DFNB36 ESR1 133430 ESR, NR3A1, Era, ER-alpha ESR2 601663 NR3A2, Erb, ER-beta ESRRA 601998 ESRL1, ERR1, ERRalpha, NR3B1, ERRa ESRRB 602167 ESRL2, DFNB35, ERR2, ERRbeta, NR3B2, ERRb ETF1 600285 SUP45L1, ERF1, ERF, eRF1, TB3-1, RF1 ETFA 608053 GA2, EMA, MADD ETFB 130410 ETFDH 231675 ETFQO ETHE1 608451 YF13H12, HSCO ETNPPL 614682 AGXT2L1 NM_001146627.1: 1 ETV5 601600 ERM

Page 36 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases ETV6 600618 TEL NM_153717.2: 1 EVC NM_001306092.1: 1 604831 DWF-1 NM_001306090.1: 1 EVC2 607261 LBN EWSR1 133450 EWS EXO1 606063 HEX1, hExoI EXOC4 608185 SEC8L1, KIAA1699, MGC27170, SEC8, Sec8p EXOC6B 607880 SEC15L2, SEC15B, KIAA0919 EXOC8 615283 SEC84, EXO84, Exo84p EXOSC2 602238 hRrp4p, Rrp4p, RRP4, p7 hRrp40p, Rrp40p, RRP40, CGI-102, p10, hRrp- EXOSC3 606489 40 OIP2, RRP43, bA421P11.3, Rrp43p, EAP2, p9, EXOSC8 606019 CIP3 EXPH5 612878 SLAC2-B EXT1 608177 LGCR, LGS, ttv EXT2 608210 SOTV EXTL3 605744 botv, REGR EYA1 601653 BOR EYA4 603550 DFNA10, CMD1J C6orf180, EGFL11, RP25, EGFL10, C6orf178, EYS 612424 C6orf179, dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1 EZH2 601573 EZH1, ENX-1, KMT6, KMT6A EZR 123900 VIL2 F10 613872 F11 264900 FXI F12 610619 F13A1 134570 F13A F13B 134580 FXIIIB F2 176930 F2R 187930 TR, CF2R, PAR1, PAR-1 F5 612309 F7 613878 F8 300841 F8C, FVIII, DXS1253E, HEMA NM_019863.2: 1 F9 300746 FIX FA2H 611026 FAXDC1, SPG35, FAAH, FLJ25287 FAAH 602935 FAAH-1 FAAH2 300654 AMDD, RP11-479E16.1, FLJ31204, FAAH-2 FAAP24 610884 C19orf40, FLJ46828, MGC32020 FABP3 134651 MDGI, FABP11, H-FABP, O-FABP FABP7 602965 B-FABP, BLBP FADD 602457 MORT1, GIG3

Page 37 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases FAH 613871 FAM111A 615292 FLJ22794, KIAA1895 FAM111B 615584 CANP FAM120AOS C9orf10OS FAM126A 610531 DRCTNNB1A, HCC, HYCC1, hyccin FAM136A 616275 FLJ14668 FAM161A 613596 RP28, FLJ13305 FAM177A1 C14orf24 FAM20A 611062 DKFZp434F2322 FAM20C 611061 IMAGE:4942737, DKFZp547D065, DMP4, G-CK FAM83H 611927 FLJ46072 FAN1 613534 KIAA1018, MTMR15 FANCA 607139 FACA, FANCH, FAA, FA-H, FAH NM_001018112.1: 11 FANCB 300515 FAB, FLJ34064, FAAP95 FANCC 613899 FACC, FAC, FA3 NM_033084.4: 22 FANCD2 NM_001319984.1: 22 613984 FACD, FANCD, FAD, FA-D2 NM_001018115.2: 22 FANCE 613976 FACE, FAE FANCF 613897 FAF FANCG 602956 XRCC9, FAG FANCI 611360 KIAA1794, FLJ10719 FANCL 608111 PHF9, FLJ10335, FAAP43, Pog FANCM 609644 KIAA1596, FAAP250 FAR1 616107 MLSTD2, FLJ22728, SDR10E1 FARS2 611592 FARS1, dJ236A3.1 FAS 134637 FAS1, APT1, TNFRSF6, CD95, APO-1 FASLG 134638 APT1LG1, TNFSF6, FasL, CD178 FASN 600212 FAS, SDR27X1 FASTKD2 612322 KIAA0971 FASTKD3 617530 MGC5297, FLJ23274 FAT1 600976 FAT, CDHF7, CDHR8 FAT3 612483 KIAA1989, CDHF15, CDHR10 FAT4 612411 CDHF14, FAT-J, CDHR11 FBLN1 135820 FBLN FBLN2 135821 FBLN5 604580 EVEC, UP50, DANCE, ARMD3 FBN1 134797 FBN, MFS1, WMS, MASS, OCTD, SGS FBN2 612570 CCA, DA9 FBP1 611570 FBP FBXL4 605654 FBL4, FBL5 FBXL6 609076 FBL6 FBXO31 609102 FBX14, FBXO14, Fbx31, MGC15419 FBXO32 606604 MAFbx, ATROGIN1, Fbx32

Page 38 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases FBXO38 608533 MOKA, SP329, FLJ13962, Fbx38 FBXO7 605648 FBX7, Fbx, PARK15 FBXW4 608071 SHFM3, Fbw4, dactylin FCG2, FCGR2A1, FCGR2, CD32, CD32A, IGFR2, FCGR2A 146790 CDw32 NM_000569.7: 1-3 NM_001127592.2: 1-3 NM_001329120.1: 2-4 FCGR3A NM_001329122.1: 1-3 146740 FCGR3, FCG3, CD16, CD16a NM_001127595.1: 2-4 NM_001127596.1: 2-4 NM_001127593.1: 2-4 NM_000570.4: 2-4 NM_001244753.1: 1-3 FCGR3B NM_001271037.1: 2-3 610665 FCGR3, FCG3, CD16, CD16b NM_001271035.1: 1-3 NM_001271036.1: 2-3 FCN1 601252 FCNM FCN2 601624 P35, FCNL, EBP-37, ficolin-2 FCN3 604973 FCNH, HAKA1 FDPS 134629 FECH 612386 FEN1 600393 RAD2, FEN-1, MF1 FERMT1 607900 C20orf42, FLJ20116, URP1, KIND1, UNC112A URP2, KIND3, MIG2B, MGC10966, MIG-2, FERMT3 607901 UNC112C FEZF1 613301 ZNF312B FGA 134820 FGB 134830 FGD1 300546 FGDY, ZFYVE3 FGD4 611104 FRABP, frabin, ZFYVE6, CMT4H FGFA, AFGF, ECGF, ECGFA, ECGFB, HBGF1, FGF1 131220 ECGF-beta, FGF-alpha, GLIO703 FGF10 602115 FGF12 601513 FGF12B, FHF1 FGF14 601515 FHF4, SCA27 NM_001321937.1: 4 FGF16 300827 MF4 FGF17 603725 FGF-13 FGF20 605558 FGF23 605380 FGF3 164950 INT2, HBGF-3 FGF5 165190 FGF8 600483 AIGF FGF9 600921

Page 39 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases FGFBP1 607737 HBP17, FGFBP FLT2, KAL2, H2, H3, H4, H5, CEK, FLG, BFGFR, N- FGFR1 136350 SAM, CD331 KGFR, BEK, CFD1, JWS, CEK3, TK14, TK25, ECT1, FGFR2 176943 K-SAM, CD332 FGFR3 134934 ACH, CEK2, JTK4, CD333 FGFR4 134935 JTK2, CD334 FGG 134850 FH 136850 SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FHL1 300163 FLH1A, MGC111107 FHL2 602633 SLIM3, DRAL FHOD3 609691 FHOS2, KIAA1695, FLJ22297, FLJ22717 FIBP 608296 FGFIBP KIAA0274, SAC3, hSac3, dJ249I4.1, ALS11, FIG4 609390 CMT4J FIGLA 608697 bHLHc8 FKBP10 607063 hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833 FKBP14 614505 FLJ20731, FKBP22 FKBP5 602623 FKBP51, FKBP54, PPIase, P54, Ptg-10 NM_003602.4: 1-2 FKBP6 NM_001281304.1: 1-2 604839 PPIase, FKBP36 NM_001135211.2: 2 FKBPL 617076 DIR1, NG7, WISp39 FKRP 606596 LGMD2I, MDC1C FKTN 607440 FCMD, LGMD2M FLAD1 610595 PP591, FAD1 FLCN 607273 BHD, MGC17998, MGC23445 FLG 135940 FLI1 193067 SIC-1, EWSR2 FLNA 300017 FLN1, FLN, OPD2, OPD1, ABP-280 FLNB 603381 FLN1L, LRS1, TAP, TABP, ABP-278, FH1 NM_001458.4: 47 FLNC 102565 FLN2, ABP-280, ABPL NM_001127487.1: 46 FLRT1 604806 MGC21624, SPG68 FLRT3 604808 FLT1 165070 FLT, VEGFR1 FLT3 136351 STK1, FLK2, CD135 FLT4 136352 VEGFR3, PCL FLVCR1 609144 AXPC1, FLVCR, MFSD7B, PCA, SLC49A1 FLVCR2 610865 C14orf58, FLJ20371, MFSD7C, SLC49A2, CCT LD, FMN, DKFZP686C2281, FLJ45135, FMN1 136535 MGC125288, MGC125289

Page 40 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases NM_020066.4: 5 FMN2 606373 NM_001305424.1: 6 FMO3 136132 FMR1 309550 POF1, POF, FMRP, FRAXA, MGC87458 FN1 135600 MSF, CIG, LETS, GFND2, FINC FN3K 608425 FNIP1 610594 KIAA1961 FOCAD 614606 KIAA1797, FLJ20375 NM_004476.1: 16 NM_001193472.1: 17 FOLH, PSM, PSMA, NAALAD1, NAALAdase, FOLH1 NM_001193473.1: 14 600934 GCP2, GCPII NM_001193471.1: 17 NM_001014986.1: 16 FOLR1 136430 FOLR FOXA2 600288 HNF3B FOXA3 602295 HNF3G FOXC1 601090 FKHL7, IRID1, FREAC3, ARA, IGDA, IHG1 FOXC2 602402 FKHL14, MFH-1 FOXE1 602617 FKHL15, TITF2, FOXE2, TTF-2, HFKH4 FOXE3 601094 FKHL12, FREAC8 FOXF1 601089 FKHL5, FREAC1 FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FOXG1 164874 FKHL3, FOXG1A, HFK2, QIN, BF1, HFK1, HFK3, HBF-3 FOXH1 603621 FAST1 FOXI1 601093 FKHL10, FREAC6 FOXL1 603252 FKHL11, FREAC7, FKH6 FOXL2 605597 BPES, BPES1 FOXN1 600838 WHN, RONU, FKHL20 FOXO1 136533 FKHR, FOXO1A, FKH1 FOXP1 605515 QRF1, 12CC4, HSPC215, hFKH1B FOXP2 605317 TNRC10, SPCH1, CAGH44 FOXP3 300292 IPEX, JM2, XPID, AIID, PIDX, DIETER, SCURFIN FOXRED1 613622 H17 FPGS 136510 FPR1 136537 FPR, FMLP FPRL1, LXA4R, HM63, FPRH2, FMLPX, FPR2A, FPR2 136538 FMLP-R-II, ALXR FRAS1 607830 FLJ22031, FLJ14927, KIAA1500 C9orf154, FLJ25461, C9orf145, C9orf143, FREM1 608944 DKFZp686M16108, TILRR FREM2 608945 DKFZp686J0811 FRMD4A 616305 FRMD4, FLJ10210, KIAA1294, bA295P9.4 FRMD7 300628 NYS, NYS1, FLJ43346 FRMPD4 300838 PDZK10, PDZD10, KIAA0316

Page 41 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases FRRS1L 604574 C9orf4, CG-6 FRY 614818 C13orf14, bA37E23.1, 13CDNA73, CG003 FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRZB 605083 FRITZ, FRZB-1, FZRB, hFIZ FSCN2 607643 RP30, RFSN FSHB 136530 FSHR 136435 ODG1, FSHRO, LGR1 FTCD 606806 FTH1 134770 FTHL6, FTH, PLIF, PIG15, FHC FTL 134790 MGC71996, NBIA3 FTMT 608847 MtF FTO 610966 KIAA1752, MGC5149, ALKBH9 MRX9, MRX44, JM23, CDLIV, SPB1, TRM7, FTSJ1 300499 TRMT7 FUCA1 612280 FUS 137070 ALS6, TLS, FUS1, hnRNP-P2, HNRNPP2 FUT1 211100 H, HSC FUT2 182100 SE, sej, Se2, SEC2 FUT7 602030 FUZ 610622 FLJ22688, Fy, CPLANE3 FXN 606829 FRDA, FA, FARR, X25, CyaY FXYD2 601814 ATP1G1, HOMG2, MGC12372 FYB1 602731 FYB, SLAP-130, FYB-120/130, ADAP FYCO1 607182 FLJ13335, ZFYVE7 FZD2 600667 FZD4 604579 EVR1, CD344 FZD5 601723 C2orf31, HFZ5, DKFZP434E2135 FZD6 603409 Hfz6 G6PC 613742 G6PT, GSD1a G6PC2 608058 IGRP G6PC3 611045 UGRP G6PD 305900 G6PD1 GAA 606800 GAB2 606203 KIAA0571 GABARAP 605125 MM46, ATG8A GABARAPL1 607420 gec1, APG8L, ATG8L, ATG8B GABARAPL2 607452 GEF2, ATG8, GATE16, GATE-16, ATG8C GABBR1 603540 hGB1a, GPRC3A NM_005458.7: 1 GABBR2 607340 GPR51, HG20, GABABR2, GPRC3B GABRA1 137160 EJM5 GABRA2 137140 GABRA4 137141 GABRA5 137142 GABRA6 137143 GABRB1 137190

Page 42 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases GABRB2 600232 GABRB3 137192 GABRD 137163 GABRE 300093 GABRG1 137166 GABRG2 137164 GABRG3 600233 GABRP 602729 GABRQ 300349 THETA GABRR1 137161 GABRR2 137162 GAD1 605363 GAD GAD2 138275 GAD65 GAK 602052 DNAJC26 GAL 137035 GALN, GMAP, GAL-GMAP, GLNN GAL3ST2 608237 GP3ST GAL3ST4 608235 FLJ12116 GALC 606890 GALE 606953 SDR1E1 GALK1 604313 GALK GALNS 612222 GAS, GALNAC6S GALNT12 610290 GalNAc-T12 GALNT14 608225 GalNac-T10, FLJ12691, GalNac-T14 GALNT2 602274 GalNAc-T2 GALNT3 601756 GalNAc-T3, HHS, HFTC GALNTL5 615133 GALNT15, GalNAc-T5L GALP 611178 GALT 606999 GAMT 601240 PIG2, TP53I2 GAN 605379 GAN1, KLHL16 GANAB 104160 GluII, G2AN, KIAA0088, GIIA GAP43 162060 B-50, PP46 GARS 600287 CMT2D, GlyRS, DSMAV, SMAD1 GAS1 139185 GAS8 605178 GAS11, DRC4 GATA1 305371 GF1, ERYF1, NFE1, GATA-1, NF-E1 GATA2 137295 NFE1B GATA3 131320 HDR GATA4 600576 GATA5 611496 bB379O24.1, GATAS GATA6 601656 GATAD1 614518 ODAG, RG083M05.2, FLJ22489 GATAD2B 614998 P66beta GATM 602360 AGAT

Page 43 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases NM_001005741.2: 12 NM_001171811.1: 10 GBA NM_000157.3: 11 606463 GLUC, GBA1 NM_001171812.1: 10 NM_001005742.2: 12 GBA2 609471 SPG46, KIAA1605, AD035, DKFZp762K054 GBE1 607839 GCDH 608801 ACAD5 GCGR 138033 GGR GCH1 600225 GCH, DYT5, DYT14, GTPCH1, DYT5a GCHFR 602437 GFRP, HsT16933 GCK 138079 MODY2, HK4 GCKR 600842 GCLC 606857 GLCLC, GLCL, GCS GCM2 603716 GCMB, hGCMb NACGT1, II, GCNT5, CCAT, IGNT, NAGCT1, GCNT2 600429 bA421M1.1, bA360O19.2, ULG3 GCSH 238330 GDAP1 606598 CMT4A, CMT4, CMT2K GDF1 602880 GDF2 605120 BMP-9, BMP9 GDF3 606522 GDF5 601146 CDMP1, BMP14 GDF6 601147 SGM1, BMP13, KFS, KFS1 GDF9 601918 MRX48, MRX41, GDIL, RABGDIA, XAP-4, GDI1 300104 OPHN2, FLJ41411 GDNF 600837 ATF1, ATF2, HFB1-GDNF HHRF-1, DKFZP434B131, p97, DKFZP434D174, GEMIN4 606969 HC56, HCAP1 GEN1 612449 FLJ40869, Gen GFAP 137780 FLJ45472 GFER 600924 HSS, ERV1, ALR, HERV1, HPO1, HPO2 GFI1 600871 ZNF163, GFI1A, GFI-1 GFI1B 604383 ZNF163B GFM1 606639 EFGM, GFM, EGF1, mtEF-G1 GFM2 606544 EFG2, FLJ21661, EF-G2mt GFPT1 138292 GFPT, GFAT, GFA, GFAT1 GDNFRA, RETL1, GDNFR, GFR-ALPHA-1, RET1L, GFRA1 601496 TRNR1 GGCX 137167 VKCFD1 GH1 139250 GH-N, GHN, GH, hGH-N GH2 139240 GH-V, GHV, GHL, hGH-V GHR 600946 GHBP GHRHR 139191 GHRL 605353 MTLRP, ghrelin, obestatin

Page 44 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases GHSR 601898 PERQ2, PERQ3, TNRC15, PARK11, KIAA0642, GIGYF2 612003 GYF2 GIPC3 608792 C19orf64, DFNB72, DFNB15, DFNB95 GIT1 608434 GJA1 121014 ODDD, GJAL, CX43, ODD, ODOD, SDTY3 GJA3 121015 CZP3, CX46 GJA5 121013 CX40 GJA8 600897 CAE1, CZP1, CAE, CX50 GJB1 304040 CMTX1, CMTX, CX32 GJB2 121011 DFNB1, DFNA3, CX26, NSRD1 GJB3 603324 DFNA2, EKV, CX31 GJB4 605425 CX30.3 GJB6 604418 DFNA3, ED2, EDH, HED, CX30 GJC2 608803 GJA12, CX47, CX46.6, SPG44 GJC3 611925 GJE1, CX30.2 NM_000167.5: 19 NM_001128127.2: 20 GK 300474 GK1, GKD NM_001205019.1: 21 NM_203391.3: 20 GLA 300644 GALA GLB1 611458 ELNR1, EBP GLCCI1 614283 GIG18, FAM117C, TSSN1 GLDC 238300 GCSP, NKH GLDN 608603 COLM, CRG-L2, CLOM, colmedin, UNC-112 GLE1 603371 GLE1L, LCCS1, hGLE1 GLI1 165220 GLI GLI2 165230 THP2, HPE9, THP1 GCPS, PHS, PAP-A, PAPA, PAPA1, PAPB, ACLS, GLI3 165240 PPDIV GLIS2 608539 NPHP7 GLIS3 610192 ZNF515, MGC33662 GLMN 601749 VMGLOM, FAP48, GLML, GVM, FKBPAP GLP1R 138032 GLP-1R GLRA1 138491 STHE GLRA2 305990 GLR GLRB 138492 GLRX5 609588 C14orf87, PR01238, GRX5 GLUD1 138130 GLUD, GDH GLUD2 300144 GLUDP1 NM_002065.6: 8 GLUL NM_001033056.3: 7 138290 GLNS NM_001033044.3: 7 GLYCTK 610516 HBEBP4, HBEBP2 GM2A 613109 SAP-3 GMNN 602842 Gem

Page 45 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases GMPPA 615495 GMPPB 615320 KIAA1851 GNA11 139313 HHC2, FBH, FBH2, FHH2

GNA12 NM_001293092.1: 1 604394 gep NM_007353.2: 1 GNAI1 139310 GNAI2 139360 GNAI2B, GIP GNAI3 139370 87U6 GNAL 139312 GNAO1 139311 G-ALPHA-o GNAQ 600998 G-ALPHA-q, GAQ GNAS1, NESP55, NESP, GNASXL, GPSA, SCG6, GNAS 139320 SgVI GNAT1 139330 CSNBAD3 GNAT2 139340 ACHM4 GNB1 139380 GNB1L 610778 GY2, WDR14 GNB3 139130 GNB4 610863 GNB5 604447 GB5 GNE 603824 IBM2, Uae1 GNG12 615405 GNL2 609365 Ngp-1, HUMAUANTIG, Nog2, Nug2 GNMT 606628 GNPAT 602744 DHAPAT, DAPAT, DAP-AT GNPTAB 607840 GNPTA, KIAA1208, MGC4170 GNPTG 607838 GNPTAG, C16orf27, CAB56184, c316G12.3 GNRH1 152760 GRH, GNRH, LHRH GNRHR 138850 GRHR, LHRHR GNS 607664 GOLGA2 602580 GM130, golgin-95 NM_001282860.1: 25, 30-31 GON4L NM_001282856.1: 25, 30-31 610393 GON4, FLJ20203, GON-4, YARP NM_001282858.1: 25, 30-31 GORAB 607983 SCYL1BP1, FLJ11752, NTKL-BP1, GO GOSR2 604027 GS27, Bos1 GOT1 138180 AST1 GP1BA 606672 GP1B, CD42b, GPIbalpha GP1BB 138720 CD42c, GPIbbeta GP6 605546 GPVI GP9 173515 CD42a, GPIX GPATCH3 617486 GPATC3, FLJ12455 GPATCH8 614396 KIAA0553, GPATC8 BG37, GPCR, TGR5, M-BAR, GPCR19, GPR131, GPBAR1 610147 MGC40597

Page 46 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases GPC3 300037 SDYS, OCI-5, SGBS, SGBS1, SGB, DGSX GPC6 604404 GPD1 138420 GPD1L 611778 KIAA0089 GPD2 138430 GPHN 603930 KIAA1385 GPI 172400 AMF, NLK GPIHBP1 612757 LOC338328, GPI-HBP1 GPR101 300393 GPR143 300808 OA1 GPR161 612250 RE2 GPR174 300903 FKSG79 GPR179 614515 GPR158L1, CSNB1E GPR180 607787 ITR GPR68 601404 OGR1 GPR75 606704 WI-31133 GPR85 605188 SREB2 GPR88 607468 GPSM2 609245 DFNB82, LGN, Pins GPT 138200 ALT1, GPT1 GPT2 138210 ALT2 GPX1 138320 GPX4 138322 PHGPx, MCSP GRB2 108355 NCKAP2 CKTSF1B1, CRAC1, DRM, gremlin, DAND2, GREM1 603054 HMPS GREM2 608832 Prdc, FLJ21195, CKTSF1B2, DAND3 GRHL2 608576 DFNA28, TFCP2L3, FLJ13782, BOM GRHL3 608317 TFCP2L4, SOM GRHPR 604296 GLXR, PH2 GRIA1 138248 GLUR1, GluA1, GLURA GRIA3 305915 GLUR3, GluA3, GLURC, MRX94 GRID2 602368 GluD2, GluR-delta-2 GRIK2 138244 GLUR6, GluK2, MRT6 GRIK4 600282 GRIK, GluK4, KA1 GRIK5 600283 GRIK2, GluK5, KA2 GRIN1 138249 NMDAR1, GluN1 GRIN2A 138253 NMDAR2A, GluN2A GRIN2B 138252 NMDAR2B, GluN2B GRIN2D 602717 NMDAR2D, GluN2D, EB11, NR2D GRIP1 604597 GRK1 180381 RHOK, GPRK1, RK GRK5 600870 GPRK5 GRM1 604473 GPRC1A, mGlu1, MGLUR1, PPP1R85 GRM6 604096 GPRC1F, mGlu6, MGLUR6, CSNB1B

Page 47 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases

GRM7 604101 GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87 GRN 138945 PCDGF, PGRN, CLN11 GRXCR1 613283 DFNB25, PPP1R88 GRXCR2 615762 DFNB101 GSC 138890 GSDME 608798 DFNA5, ICERE-1 GSK3B 605004 GSKIP 616605 C14orf129 GSN 137350 DKFZp313L0718 GSPT2 300418 eRF3b, FLJ10441 GSR 138300 GSS 601002 GSTM1 138350 GST1, MU, H-B GSTM3 138390 GST5 GSTO1 605482 GSTTLp28, P28 NM_000852.3: 1 GSTP1 134660 FAEES3, GST3, GSTP GSTT1 600436 GTF2E2 189964 TFIIE-B, FE, TF2E2 C6orf175, TTD, FLJ30544, bA120J8.2, TTD-A, GTF2H5 608780 TFB5, TFIIH, TTDA WBSCR11, MusTRD1, RBAP2, GTF3, WBSCR12, GTF2IRD1 604318 BEN, Cream1 GTPBP2 607434 GTPBP3 608536 MSS1, THDF1, GTPBG3, MTGP1, FLJ14700 GUCA, GUCA1, C6orf131, GCAP, GCAP1, COD3, GUCA1A 600364 dJ139D8.6, CORD14 GUCA1B 602275 GCAP2, RP48 GUCY1A1 139396 GUC1A3, GUCY1A3, GC-SA3 GUCY2C 601330 GUC2C, STAR CORD6, LCA, GUC2D, GUC1A4, retGC, RETGC-1, GUCY2D 600179 ROS-GC1, CYGD, LCA1 GUF1 617064 FLJ13220 GUSB 611499 GYG1 603942 GYG GYG2 300198 GN-2 NM_002099.7: 1 GYPA NM_001308190.1: 1 617922 MNS, GPA, MN, CD235a NM_001308187.1: 1 GYPC 110750 GPC, GYPD, Ge, CD236, CD236R GYS1 138570 GYS, GSY GYS2 138571 D11S813E, ASM, ASM1, NCRNA00008, H19 103280 LINC00008 H6PD 138090 GDH

Page 48 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases HABP2 603924 HABP, PHBP, HGFAL, FSAP HACD1 610467 PTPLA, CAP HACE1 610876 KIAA1320 HADH 601609 HADHSC, HADH1, SCHAD HADHA 600890 GBP, LCEH, LCHAD, MTPA HADHB 143450 MTPB HAL 609457 HIS HAMP 606464 LEAP-1, HEPC, HFE2B, LEAP1 HAND1 602406 eHand, Thing1, Hxt, bHLHa27 HAND2 602407 dHand, Thing2, Hed, bHLHa26 HAO1 605023 GOX1, GOX HARS 142810 USH3B, HisRS HARS2 600783 HARSL, HO3, HARSR HAS2 601636 HAS3 602428 HAX1 605998 HS1BP1, HCLSBP1 HBB 141900 CD113t-C, beta-globin HBD 142000 HBM 609639 HBAP2, HBK ERFS, HBS1, HSPC276, KIAA1038, HBS1L 612450 DKFZp434g247, EF-1a, eRF3c HCCS 300056 MLS, CCHL HFC1, MRX3, HCF-1, HCF1, CFF, VCAF, HCFC1 300019 MGC70925, PPP1R89 HCN1 602780 BCNG1, BCNG-1, HAC-2 NM_001194.3: 1, 8 HCN2 602781 BCNG2, BCNG-2, HAC-1 HCN3 609973 KIAA1535 HCN4 605206 HCP5 604676 D6S2650E, P5-1 HCRT 602358 PPOX, OX HCRTR2 602393 OX2R BDMR, KIAA0288, HDAC-A, HDACA, HD4, HDAC4 605314 HA6116, HDAC-4 HDAC6 300272 KIAA0901, JM21, HD6, FLJ16239, PPP1R90 HDAC8 300269 HDACL1, WTS, MRXS6, RPD3 HDC 142704 HECW2 617245 KIAA1301, NEDL2 HELLS 603946 PASG, SMARCA6, LSH, Nbla10143 HELQ 606769 Hel308 HEPACAM 611642 FLJ25530, hepaCAM, GLIALCAM HEPH 300167 KIAA0698, CPL HERC1 605109 p532, p619 NM_004667.5: 2, 27, 29-30, 32, HERC2 44-47, 52, 75 605837 jdf2, p528, D15F37S1

Page 49 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases HES7 608059 bHLHb37 HESX1 601802 RPX, ANF HEXA 606869 HEXB 606873 HEXD 616864 HEXDC, FLJ23825 HFE 613609 HLA-H HFM1 615684 SEC63D1, MER3, FLJ39011, FLJ36760 HGD 607474 AKU, HGO HGF 142409 DFNB39, SF, F-TCF, HGFB, HPTA NM_152419.2: 1 HGSNAT 610453 TMEM76, FLJ32731, HGNAT FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, HHAT 605743 GUP2 HHIP 606178 HIP, FLJ20992 HIBCH 610690 HIF1A 603348 MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78 HIKESHI 614908 C11orf73, HSPC138, HSPC179, OPI10 HINT1 601314 PRKCNH1, HINT, PKCI-1 HINT2 609997 HIST3H3 602820 H3FT, H3t, H3/g, H3.4 MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, HIVEP2 143054 ZNF40B HFE2, JH, HFE2A, RGMC, hemojuvelin, HJV 608374 haemojuvelin HK1 142600 HK2 601125 HLA-DPB1 142858 HLA-DP1B HLCS 609018 HCS HMBS 609806 PBGD, UPS, PORC HMCN1 608548 ARMD1, FBLN6, FIBL6, FIBL-6 HMGA1 600701 HMGIY HMGA2 600698 HMGIC, BABL, LIPO NM_001300919.1: 4 NM_002128.5: 5 HMGB1 NM_001313892.1: 5 163905 HMG1, HMG3, SBP-1, DKFZp686A04236 NM_001313893.1: 5 HMGB3 300193 HMG4, HMG2A, MGC90319 HMGCL 613898 HL HMGCR 142910 HMGCS2 600234 HMOX1 141250 bK286B10, HO-1 HMX1 142992 H6, NKX5-3 HNF1A 142410 MODY3, TCF1, HNF1, LFB1 HNF1B 189907 TCF2, LFB3, VHNF1, HNF1beta, MODY5 HNF4A 600281 TCF14, MODY, MODY1, NR2A1, HNF4 HNMT 605238

Page 50 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases HNRNPA0 609409 HNRPA0, hnRNPA0 HNRNPA1 164017 HNRPA1, hnRNPA1, hnRNP-A1, ALS20 HNRNPA2B1 600124 HNRPA2B1 HNRNPDL 607137 HNRPDL, JKTBP, laAUF1 HNRNPH1 601035 HNRPH1, hnRNPH HNRNPH2 300610 HNRPH2, hnRNPH', FTP3, HNRPH' HNRNPK 600712 HNRPK, CSBP, TUNP HNRPU, HNRNPU-AS1, C1orf199, NCRNA00201, HNRNPU 602869 SAF-A, hnRNPU, FLJ37978, FLJ30202

HOGA1 613597 C10orf65, DHDPSL, FLJ37472, DHDPS2, NPL2 CPD, Cupidin, Vesl-2, HOMER-2B, HOMER-2, HOMER2 604799 HOMER-2A, DFNA68 HOMEZ 608119 KIAA1443 HOXA1 142955 HOX1F, HOX1 HOXA10 142957 HOX1H, HOX1 HOXA11 142958 HOX1I, HOX1 HOXA13 142959 HOX1J, HOX1 HOXA2 604685 HOX1K HOXA4 142953 HOX1D, HOX1 HOXB1 142968 HOX2, HOX2I HOXB13 604607 HOXB6 142961 HOX2, HOX2B HOXC13 142976 HOX3, HOX3G HOXD10 142984 HOX4, HOX4D HOXD11 142986 HOX4, HOX4F HOXD13 142989 HOX4I, SPD HOXD4 142981 HOX4B, HOX4 NM_005143.4: 1, 3-6 HP NM_001318138.1: 1, 3-4 140100 NM_001126102.2: 1, 3-4 HPCA 142622 HPD 609695 PPD, 4-HPPD, 4HPPD, GLOD3 HPGD 601688 SDR36C1 HPRT1 308000 HPRT, HGPRT HPS1 604982 HPS, BLOC3S1 HPS3 606118 SUTAL, BLOC2S1 HPS4 606682 KIAA1667, LE, BLOC3S2 HPS5 607521 BLOC2S2, AIBP63, RU2 HPS6 607522 FLJ22501, BLOC2S3 HPSE2 613469 UFS, HPA2, HPR2 HR 602302 ALUNC, AU HRAS 190020 HRAS1 HRG 142640 HRGP, HPRG HSD11B1 600713 HSD11B, HSD11, SDR26C1

Page 51 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases HSD11B2 614232 SDR9C3 HADH2, MRXS10, ERAB, MHBD, 17b-HSD10, HSD17B10 300256 ABAD, SDR5C1, MRPP2, CAMR HSD17B3 605573 SDR12C2 HSD17B4 601860 MFE-2, DBP, SDR8C1 HSD3B2 613890 SDR11E2 HSD3B7 607764 C(27)-3BETA-HSD, SDR11E3 HSF2 140581 HSF4 602438 CTM HSP90B2P TRAP1, TRA1P1, HSPCP2, GRP94P1, GRP94b HSPA1L 140559 HSP70-HOM, hum70t HSPA9 600548 HSPA9B, GRP75, PBP74, mot-2, mthsp75 HSPB1 602195 HSP27, HSP28, Hs.76067, Hsp25, CMT2F HSPB3 604624 HSPL27 HSPB6 610695 FLJ32389, Hsp20, PPP1R91 HSPB8 608014 H11, E2IG1, HSP22, HspB8, CMT2L NM_002156.4: 12 HSPD1 118190 SPG13, GroEL, HSP60 NM_199440.1: 12 HSPG2 142461 SJS1, perlecan, PRCAN HSPH1 610703 HSP105B, KIAA0201, HSP105A, NY-CO-25 HTR1A 109760 ADRB2RL1, ADRBRL1, 5-HT1A HTR1B 182131 S12, 5-HT1B, HTR1D2, 5-HT1DB HTR1D 182133 HTRL, RDC4, HT1DA, 5-HT1D HTR1E 182132 5-HT1E HTR1F 182134 HTR1EL, 5-HT1F HTR2A 182135 HTR2, 5-HT2A HTR2B 601122 5-HT(2B), 5-HT2B HTR2C 312861 HTR1C, 5-HT2C, 5HTR2C HTR3A 182139 HTR3, 5-HT3R, 5-HT3A HTR3B 604654 5-HT3B HTR3C 610121 HTR3D 610122 HTR3E 610123 HTR4 602164 5-HT4 HTR5A 601305 5-HT5A HTR6 601109 5-HT6, 5-HT6R HTR7 182137 5-HT7 HTRA1 602194 PRSS11, HtrA, IGFBP5-protease, ARMD7 HTRA2 606441 PRSS25, OMI, PARK13 HTT 613004 HD, IT15 HUWE1 300697 Ib772, KIAA0312, UREB1 HYAL1 607071 LUCA1, HYAL-1

Page 52 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases NM_001270974.2: 6-84 NM_017558.4: 6-20 HYDIN 610812 DKFZp434D0513, KIAA1864, PPP1R31, CILD5 NM_001198542.1: 6-19 NM_001198543.1: 6-19 HYLS1 610693 FLJ32915 HYOU1 601746 ORP150, HSP12A, Grp170 IAPP 147940 AMYLIN, DAP, IAP IARS 600709 ILRS, IARS1 IARS2 612801 FLJ10326 IBA57 615316 C1orf69, FLJ12734 ICK 612325 MRK, LCK2, KIAA0936, MGC46090 ICOS 604558 AILIM, CD278 ID4 600581 bHLHb27 IDE 146680 IDH1 147700 IDH2 147650 IDH3A 601149 IDH3B 604526 RP46 NM_000202.7: 2-3 IDS NM_006123.4: 2-3 300823 SIDS NM_001166550.3: 2-3 IDUA 252800 MPS1 IER3IP1 609382 IFIH1 606951 MDA-5, Hlcd, MDA5, IDDM19 IFITM5 614757 fragilis4, Hrmp1, BRIL, DSPA1 IFNAR2 602376 IFNABR IFNG 147570 IFNGR1 107470 IFNGR, CD119 IFNGR2 147569 IFNGT1, AF-1 IFNL3 607402 IL28B, IL-28B, IL28C NM_001346937.1: 1 IFNL4 615090 IFNAN NM_052985.3: 15 NM_052990.2: 11 NM_001280546.1: 12 IFT122 NM_018262.3: 13 606045 WDR10, WDR140, WDR10p, SPG NM_001280541.1: 14 NM_001280545.1: 15 NM_052989.2: 14 IFT140 614620 WDTC2, gs114, KIAA0590 IFT172 607386 SLB, wim, osm-1, NPHP17, BBS20 IFT27 615870 RABL4, RAYL, BBS19 IFT43 614068 C14orf179, FLJ32173, MGC16028 IFT52 617094 C20orf9, CGI-53, NGD5, dJ1028D15.1, NGD2 IFT74 608040 CCDC2, CMG1, CMG-1, FLJ22621

Page 53 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases IFT80 611177 WDR56, KIAA1374 IFT81 605489 CDV1, CDV-1R, MGC4027 IGBP1 300139 IBP1 IGF1 147440 IGF1A, IGFI, IGF-I, IGF IGF1R 147370 JTK13, CD221, IGFIR, MGC18216, IGFR IGF2 147470 C11orf43, FLJ44734, IGF-II NM_000876.3: 1 CD222, MPRI, MPR1, CIMPR, M6P-R, CI-M6PR, IGF2R 147280 CI-MPR, MPR300 IGFALS 601489 ALS IGFBP7 602867 MAC25, IGFBP-7, PSF, FSTL2 IGHM 147020 ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, IGHMBP2 600502 HMN6, CMT2S IGLL1 146770 IGLL, IGVPB, IGL5, 14.1, CD179B KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, IGSF1 300137 PGSF2 IGSF10 617351 FLJ25972, CMF608 IGSF3 603491 V8, EWI-3, MGC117164 IHH 600726 HHG2, BDA1 IKBKB 603258 IKK2, NFKBIKB, IKK-beta, IKKB NM_001099857.2: 3-10 NM_001321396.1: 3-10 NM_001145255.2: 3-8 IP2, IP1, IKK-gamma, NEMO, Fip3p, FIP-3, FIP3, IKBKG 300248 NM_003639.4: 3-10 ZC2HC9 NM_001099856.4: 3-10 NM_001321397.1: 3-10 ZNFN1A1, hIk-1, LyF-1, Hs.54452, IKAROS, IKZF1 603023 PPP1R92 IL10 124092 CSIF, TGIF, IL10A, IL-10 IL10RA 146933 IL10R, HIL-10R, CDW210A, CD210a, CD210 CRFB4, D21S58, D21S66, CRF2-4, CDW210B, IL- IL10RB 123889 10R2 IL11RA 600939 IL12B 161561 NKSF2, CLMF, IL-12B, NKSF, CLMF2 IL12RB1 601604 IL12RB, CD212 IL12RB2 601642 IL17F 606496 IL-17F, ML-1, ML1 IL17RA 605461 IL17R, hIL-17R, IL-17RA, CDw217, CD217 IL17RC 610925 IL17-RL IL17RD 606807 SEF, IL17RLM, FLJ35755, IL-17RD IL18RAP 604509 AcPL, CD218b IL1R2 147811 IL1RB, CD121b IL1RAPL, MRX34, MRX21, MRX10, OPHN4, IL1RAPL1 300206 TIGIRR-2, IL1R8 IL1RN 147679 IL1RA, ICIL-1RA, IL1F3, IRAP, IL-1RN, MGC10430

Page 54 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases IL21 605384 Za11, IL-21 IL21R 605383 CD360 IL23R 607562 IL-23R IL27RA 605350 WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R IL2RA 147730 IL2R, IDDM10, CD25 IL2RG 308380 SCIDX1, IMD4, CIDX, CD132 IL31RA 609510 CRL3, GLM-R, CRL, Glmr, IL-31RA IL1F5, FIL1, FIL1(DELTA), FIL1D, IL1HY1, IL1RP3, IL36RN 605507 IL1L1, IL-1F5, IL36RA, MGC29840 IL6 147620 IFNB2, IL-6, BSF2, HGF, HSF IL7 146660 IL-7 IL7R 146661 CD127, IL7RA ILDR1 609739 DFNB42, MGC50831 ILK 602366 IMPA1 602064 IMPA IMPAD1 614010 FLJ20421, IMPA3, gPAPP IMPDH1 146690 RP10, sWSS2608, LCA11 IMPDH2 146691 IMPG1 602870 SPACR, IPM150, GP147 IMPG2 607056 IPM200, RP56 INF2 610982 C14orf151, C14orf173, MGC13251 p33ING1, p33ING1b, p24ING1c, p33, p47, ING1 601566 p47ING1a INHA 147380 INHBA 147290 INO80 610169 INOC1, KIAA1259, Ino80, hINO80, INO80A INO80D FLJ20309 INPP4A 600916 INPP4 INPP5E 613037 JBTS1, PPI5PIV, CORS1, pharbin INPP5K 607875 SKIP INPPL1 600829 SHIP2 INS 176730 IDDM2, IDDM1 INSIG2 608660 INSL3 146738 RLNL, RLF, MGC119818, MGC119819 NM_001265587.1: 2 INSR 147670 CD220 INTU 610621 PDZK6, PDZD6, KIAA1284, CPLANE4 INVS 243305 NPHP2 IP6K3 606993 IHPK3, INSP6K3 IPMK 609851 IQCB1 609237 KIAA0036, NPHP5, SLSN5 IQCK MGC35048, FLJ36575 IQGAP1 603379 p195, KIAA0051, SAR1, HUMORFA01 IQGAP2 605401 IQGAP3

Page 55 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases MRX1, MRX78, MRX18, KIAA0522, BRAG1, IQ- IQSEC2 300522 ArfGEF IRAK3 604459 IRAK-M IRAK4 606883 NY-REN-64 IRF1 147575 MAR IRF2BP2 615332 IRF-2BP2 IRF3 603734 IRF6 607199 VWS, LPS, OFC6, VWS1 IRF7 605047 IRF8 601565 ICSBP1, IRF-8, ICSBP IRGM 608212 IRGM1, LRG47, LRG-47, IFI1 IRS1 147545 HIRS-1 IRS2 600797 IRX5 606195 IRX-2a ISCA2 615317 HBLD1, ISA2 ISCU 611911 NIFUN, ISU2, hnifU, IscU ISG15 147571 G1P2, IFI15, UCRP ISL1 600366 Isl-1, ISLET1 ISPD 614631 hCG_1745121, IspD, Nip

ITCH NM_001324197.1: 7 606409 AIP4 NM_001257137.2: 7 ITGA2 192974 CD49B, CD49b ITGA2B 607759 GP2B, CD41B, CD41, PPP1R93 ITGA3 605025 MSK18, CD49c, VLA3a, VCA-2, GAP-B3 ITGA4 192975 CD49D, CD49d ITGA6 147556 CD49f ITGA7 600536 ITGA8 604063 ITGA9 603963 RLC, ITGA4L, ALPHA-RLC ITGAM 120980 CR3A, CD11B, MAC-1, CD11b ITGB2 600065 CD18, MFI7, LFA-1, MAC-1 ITGB3 173470 GP3A, CD61, GPIIIa ITGB4 147557 CD104 ITGB6 147558 ITIH4 600564 ITIHL1, IHRP, H4P ITK 186973 EMT, PSCTK2, LYK ITM2B 603904 BRI, E25B, E3-16, BRICD2B, BRI2 ITPA 147520 C20orf37, HLC14-06-P, dJ794I6.3 SCA15, SCA16, SCA29, Insp3r1, IP3R1, ACV, ITPR1 147265 PPP1R94 ITPR2 600144 IP3R2, CFAP48 SH3D1A, ITSN, SH3P17, MGC134948, ITSN1 602442 MGC134949 IVD 607036 ACAD2

Page 56 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases NS1-BP, HSPC068, NS-1, KIAA0850, ND1, IVNS1ABP 609209 KLHL39, ARA3 IYD 612025 C6orf71, dJ422F24.1, DEHAL1 JAG1 601920 AGS, JAGL1, AHD, AWS, HJ1, CD339 JAGN1 616012 GL009, FLJ14602 JAK2 147796 JTK10 JAK3 600173 L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3 JAM3 606871 JAM-C, JAMC TRIP8, DKFZp761F0118, KIAA1380, FLJ14374, JMJD1C 604503 KDM3C JPH1 605266 JP-1 JPH2 605267 JP-2 JPH3 605268 TNRC22, JP-3, CAGL237, HDL2, JP3 JUP 173325 CTNNG, DP3, PDGB, PKGB, DPIII HAPIP, duo, Hs.8004, TRAD, DUET, Kalirin, KALRN 604605 ARHGEF24 KANK1 607704 ANKRD15, KIAA0172, KANK KANK2 614610 MXRA3, ANKRD25, KIAA1518 KANK4 614612 ANKRD38, KIAA0172 KIAA1267, DKFZP727C091, MSL1v1, CENP-36, KANSL1 612452 NSL1 KARS 601421 DFNB89, KARS2, KARS1 KAT6A 601408 ZNF220, RUNXBP2, MYST3, MOZ, ZC2HC6A KAT6B 605880 MYST4, querkopf, qkf, Morf, MOZ2, ZC2HC6B KAT7 609880 MYST2, HBOA, HBO1, ZC2HC7 KAT8 609912 MYST1, MOF, FLJ14040, hMOF, ZC2HC8 KATNAL2 614697 MGC33211, DKFZP667C165 KATNB1 602703 KBTBD13 613727 hCG_1645727, NEM6 KCNA1 176260 AEMK, Kv1.1, RBK1, HUK1, MBK1 KCNA2 176262 Kv1.2, HK4 KCNA4 176266 KCNA4L, Kv1.4, HK1, HPCN2 KCNA5 176267 Kv1.5, HK2, HPCN1 KCNAB1 601141 AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3

KCNAB2 601142 AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2 KCNB1 600397 Kv2.1 KCNB2 607738 Kv2.2 KCNC1 176258 Kv3.1 KCNC3 176264 SCA13, Kv3.3 KCND2 605410 Kv4.2, RK5, KIAA1044 KCND3 605411 SCA22, SCA19, Kv4.3, KSHIVB KCNE1 176261 minK, ISK, JLNS2, LQT5 KCNE2 603796 MiRP1, LQT6

Page 57 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases KCNE3 604433 MiRP2, HOKPP KCNE4 607775 MiRP3 KCNE5 300328 KCNE1L KCNH1 603305 Kv10.1, eag, h-eag, eag1 KCNH2 152427 LQT2, Kv11.1, HERG, erg1 KCNH5 605716 Kv10.2, H-EAG2, eag2 KCNH7 608169 Kv11.3, HERG3, erg3 KCNIP4 608182 CALP, KCHIP4, MGC44947 KCNJ1 600359 Kir1.1, ROMK1 KCNJ10 602208 Kir4.1, Kir1.2 KCNJ11 600937 Kir6.2, BIR KCNJ13 603208 Kir7.1, Kir1.4, LCA16 KCNJ16 605722 Kir5.1, BIR9 KCNJ2 600681 Kir2.1, IRK1, LQT7 KCNJ5 600734 Kir3.4, CIR, KATP1, GIRK4, LQT13 KCNJ6 600877 KCNJ7, Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2 KCNJ8 600935 Kir6.1 KCNK17 607370 K2p17.1, TALK-2, TALK2, TASK4, TASK-4 KCNK18 613655 K2p18.1, TRESK-2, TRESK2, TRESK, TRIK KCNK3 603220 K2p3.1, TASK, TASK-1 KCNK9 605874 K2p9.1, TASK3, TASK-3 KCNMA1 600150 SLO, KCa1.1, mSLO1 KCNN4 602754 KCa3.1, hSK4, hKCa4, hIKCa1, IK LQT, KCNA9, Kv7.1, KCNA8, KVLQT1, JLNS1, KCNQ1 607542 LQT1 EBN, EBN1, Kv7.2, ENB1, BFNC, KCNA11, KCNQ2 602235 HNSPC KCNQ3 602232 EBN2, Kv7.3 KCNQ4 603537 DFNA2, Kv7.4 KCNS1 602905 Kv9.1 KCNS2 602906 Kv9.2 KCNT1 608167 KCa4.1, KIAA1422, SLACK, Slo2.2 KCNV2 607604 Kv8.2 KCTD1 613420 C18orf5 KCTD17 616386 FLJ12242 KCTD3 613272 NY-REN-45 KCTD7 611725 FLJ32069, EPM3, CLN14 NM_001167961.2: 5 KDELC2 MGC33424 KDM1A 609132 AOF2, KDM1, KIAA0601, BHC110, LSD1 KDM5A 180202 RBBP2, JARID1A KDM5B 605393 JARID1B, RBBP2H1A, PLU-1, CT31, PPP1R98 KDM5C 314690 SMCX, JARID1C, MRX13, DXS1272E, XE169 KDM6A 300128 UTX

Page 58 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases KDM6B 611577 JMJD3, KIAA0346 KDR 191306 FLK1, VEGFR, VEGFR2, CD309 KIAA0132, MGC10630, MGC1114, MGC20887, KEAP1 606016 MGC4407, MGC9454, INrf2, KLHL19 KEL 613883 ECE3, CD238 KERA 603288 CNA2, SLRR2B KHDC3L 611687 C6orf221, ECAT1 KHK 614058 KIAA0556 616650 JBTS26, KATNIP NM_001244189.1: 33 KIAA0586 610178 Talpid3, JBTS23 NM_001329944.1: 31 KIAA0753 617112 OFIP, MNR KIAA1109 611565 FLJ21404, FSA, KIAA1371, Tweek NM_001164665.1: 1 KIAA1549 613344 NM_020910.2: 1 KIDINS220 615759 ARMS KIF11 148760 KNSL1, Eg5, HKSP, TRIP5 KIF14 611279 KIAA0042 KIF17 605037 KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2 KIF1A 601255 ATSV, C2orf20, SPG30, UNC104 KIF1B 605995 CMT2A, CMT2, KIAA0591, KLP, HMSNII KIF1BP 609367 KIAA1279, DKFZP586B0923, TTC20, KBP KIF1C 603060 SAX2, SPAX2, SPG58 KIF21A 608283 FEOM1, FLJ20052 KIF22 603213 KNSL4, Kid, OBP-1, OBP-2 KIF23 605064 KNSL5, MKLP1, MKLP-1 KIF26B 614026 FLJ10157 KIF2A 602591 KIF2, HK2 KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, KIF4A 300521 FLJ14204, FLJ20631, MRX100 KIF5A 602821 SPG10, D12S1889, NKHC, MY050 KIF5C 604593 C6orf102, dJ1043E3.1, MGC33317, dJ137F1.4, KIF6 613919 dJ188D3.1, DKFZp451I2418 KIF7 611254 JBTS12 KIRREL3 607761 NEPH2, KIAA1867, KIRRE KISS1 603286 KISS1R 604161 GPR54, HOT7T175, AXOR12 KIT 164920 PBT, CD117, SCFR, C-Kit KITLG 184745 MGF, SCF, SF, Kitl, KL-1, FPH2, SLF, DFNA69 KIZ 615757 NCRNA00153, C20orf19, PLK1S1, HT013 KL 604824 KLC2 611729 FLJ12387 KLC4 KNSL8, bA387M24.3

Page 59 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases KLF1 600599 EKLF KLF10 601878 TIEG, EGRA, TIEG1 KLF11 603301 TIEG2, Tieg3, MODY7 KLF6 602053 BCD1, ST12, COPEB, CPBP, GBF, Zf9, PAC1 KLF8 300286 BKLF3, ZNF741, DXS741 KLHDC8B 613169 MGC35097 KLHL1 605332 KIAA1490, MRP2, FLJ30047 KLHL10 608778 FLJ32662 KLHL15 300980 KIAA1677 KLHL24 611295 DRE1, FLJ20059 KLHL3 605775 KIAA1129 KLHL40 615340 KBTBD5, SRYP, NEM8 KLHL41 607701 KBTBD10, SARCOSIN, Krp1 KLHL7 611119 KLHL6, SBBI26, RP42 KLHL9 611201 KIAA1354, FLJ13568 KLK1 147910 Klk6 KLK12 605539 KLK-L5 KLK4 603767 PRSS17, EMSP, EMSP1, PSTS, KLK-L1 KLKB1 229000 KLK3 KLLN 612105 killin KMT2A 159555 MLL, TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A NM_014727.2: 1 KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, KMT2B 606834 MLL4, CXXC10 NM_170606.2: 7, 19 KMT2C 606833 MLL3, KIAA1506, HALR KMT2D 602113 TNRC21, MLL2, ALR, MLL4, CAGL114 KMT5B 610881 SUV420H1, CGI-85 KNG1 612358 KNG, BDK, BK NM_170589.4: 7-8 MCPH4, CASC5, D40, AF15Q14, CT29, KNL1 609173 NM_144508.4: 7 KIAA1570, hKNL-1, hSpc105, PPP1R55, Spc7 KPNA7 614107 IPOA8 KPTN 615620 2E4 KRAS 190070 KRAS2, KRAS1 KREMEN1 609898 KREMEN, KRM1 KRIT1 604214 CCM1, CAM KRT1 139350 EHK1, KRT1A KRT10 148080 KPP, K10, CK10 KRT12 601687 K12 KRT13 148065 K13, CK13, MGC3781, MGC161462 KRT14 148066 EBS3, EBS4 KRT16 148067 NEPPK KRT17 148069 PCHC1 KRT18 148070 KRT2 600194 KRT2A, KRTE

Page 60 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases KRT25 616646 KRT25A KRT3 148043 CK3, K3 KRT4 123940 CYK4, CK4, K4 KRT5 148040 EBS2, KRT5A NM_005554.3: 1, 6 KRT6A 148041 KRT6C, KRT6D, CK6C, K6C, CK6D, K6D NM_005555.3: 1 KRT6B 148042 KRTL1 NM_173086.4: 1, 6 KRT6C 612315 KRT6E KRT71 608245 KRT6IRS, KRT6IRS1, K6IRS1 KRT74 608248 K6IRS4, KRT5C, KRT6IRS4 KRT8 148060 CARD2, K8, CK8, CYK8, K2C8, KO NM_002281.3: 1-3 KRT81 602153 KRTHB1, Hb-1 KRT83 602765 KRTHB3, Hb-3 KRT85 602767 KRTHB5, Hb-5 NM_002284.3: 1-3 KRT86 601928 KRTHB6, MNX, Hb6 NM_001320198.1: 3-5 KRT9 607606 EPPK, K9, CK-9 KSR2 610737 FLJ25965 KY 605739 FLJ33207 KYNU 605197 L1CAM 308840 HSAS1, SPG1, HSAS, MASA, MIC5, S10, CD171 L2HGDH 609584 C14orf160, FLJ12618 LACC1 613409 C13orf31, FLJ38725, FAMIN LAMA1 150320 LAMA LAMA2 156225 LAMM LAMNA, nicein-150kDa, kalinin-165kDa, BM600- LAMA3 600805 150kDa, epiligrin LAMA4 600133 LAMA3 LAMA5 601033 LAMB1 150240 CLM LAMB2 150325 LAMS, NPHS5 LAMNB1, nicein-125kDa, kalinin-140kDa, LAMB3 150310 BM600-125kDa LAMC1 150290 LAMB2 EBR2, LAMB2T, LAMNB2, EBR2A, nicein- LAMC2 150292 100kDa, kalinin-105kDa, BM600-100kDa LAMC3 604349 DKFZp434E202 LAMP2 309060 CD107b ROBLD3, MAPBPIP, MAPKSP1AP, p14, ENDAP, LAMTOR2 610389 Ragulator2 LARGE1 603590 LARGE, KIAA0609 LARP7 612026 HDCMA18P, PIP7S, DKFZP564K112

Page 61 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, LARS 151350 RNTLS LARS2 604544 KIAA0028, LEURS, MGC26121, mtLeuRS LAS1L 300964 FLJ12525 LAT 602354 LAT1 LBR 600024 DHCR14B, TDRD18 LCA5 611408 C6orf152 LCAT 606967 LCK 153390 LCT 603202 LDB3 605906 CMD1C, PDLIM6, KIAA0613, ZASP LDHA 150000 LDHB 150100 LDLR 606945 LDLCQ2 ARH, ARH2, FHCB1, FHCB2, MGC34705, LDLRAP1 605747 DKFZp586D0624 LEF1 153245 TCF1ALPHA, TCF10, TCF7L3 NM_003240.4: 3 LEFTY2 601877 TGFB4, EBAF, LEFTA, LEFTYA NM_001172425.2: 4 LEMD2 616312 dJ482C21.1, NET25 LEMD3 607844 MAN1 LEP 164160 OBS, OB NM_002303.5: 5 NM_001198687.1: 4 NM_001198689.1: 4 LEPR 601007 OBR, CD295 NM_001003679.3: 5 NM_001198688.1: 4 NM_001003680.3: 5 NM_001040167.1: 1 LFNG 602576 SCDO3 NM_001040168.1: 1 LGI1 604619 EPT, IB1099, ETL1, EPITEMPIN LGI4 608303 LGR4 606666 GPR48 LHB 152780 LSH-B, CGB4, hLHB LHCGR 152790 HHG, LHR, LCGR, LGR2, ULG5 LHFPL5 609427 DFNB67, MGC33835, dJ510O8.8, Tmhs LHX1 601999 LIM-1, LIM1 LHX3 600577 LHX4 602146 Gsh4 LIAS 607031 LAS LIF 159540 CDF, DIA, HILDA LIFR 151443 CD118 LIG1 126391 LIG4 601837 LIM2 154045 MP19, MP17 LIMK1 601329 LIMK

Page 62 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases LIMS2 607908 PINCH2, PINCH-2 LIN7B 612331 MALS-2, LIN-7B, VELI2 LINS1 610350 LINS, WINS1 LIPA 613497 LAL, CESD LIPC 151670 HL, HTGL LIPE 151750 HSL LIPG 603684 EDL LIPH 607365 mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR LIPI 609252 PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C LIPN 613924 LIPL4, bA186O14.3 LIPT1 610284 MGC12290, MGC13378 LITAF 603795 PIG7, SIMPLE, FLJ38636, TP53I7 LLGL1 600966 DLG4, LLGL, HUGL, HUGL-1, Lgl1, Mgl1 F5F8D, MR60, ERGIC-53, ERGIC53, gp58, LMAN1 601567 MCFD1, FMFD1 LMAN2L 609552 DKFZp564L2423, VIPL LMBR1 605522 C7orf2, ACHP, FLJ11665, ZRS LMBRD1 612625 C6orf209, FLJ11240, bA810I22.1, cblF C16orf26, TMEM112, FLJ12681, JFP11, LMF1 611761 FLJ22302, TMEM112A LMN1, CMD1A, LGMD1B, PRO1, LMNL1, HGPS, LMNA 150330 MADA LMNB1 150340 NM_032737.3: 1 LMNB2 150341 LMN2 LMOD3 616112 LMX1B 602575 NPS1 LONP1 605490 PRSS15, LonHS, hLON, PIM1 LOR 152445 LOX 153455 LOXHD1 613072 DFNB77, FLJ32670, LH2D1 LOXL1 153456 LOXL, LOL LOXL3 607163 NM_005577.2: 4-17, 31 LPA 152200 LP, Lp(a) LPAR6 609239 P2RY5, P2Y5 LPIN1 605518 KIAA0188 LPIN2 605519 KIAA0249 LPIN3 605520 LIPN3L, SMP2 NM_000237.2: 10 LPL 609708 LIPD LPP 600700 LRAT 604863 LCA14 LRBA 606453 CDC4L, BGL, LAB300, LBA LRIG2 608869 KIAA0806

Page 63 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases LRIT3 615004 FLJ44691, FIGLER4, CSNB1F LRMDA 614537 C10orf11, CDA017, OCA7 APR, A2MR, IGFBP3R1, IGFBP-3R, LRP, CD91, LRP1 107770 LRP1A, APOER LRP2 600073 gp330, DBS LRP4 604270 MEGF7, CLSS, LRP-4, SOST2 LRP7, OPPG, EVR1, LR3, BMND1, HBM, OPS, LRP5 603506 OPTA1, VBCH2, EVR4 LRP6 603507 ADCAD2 LRPAP1 104225 A2MRAP, RAP, HBP44 LRPPRC 607544 LSFC, GP130, LRP130 LRRC10 610846 HRLRRP, LRRC10A LRRC6 614930 TSLRP, LRTP, CILD19 LRRC8A 608360 LRRC8, KIAA1437, FLJ10337, SWELL1 LRRK1 610986 FLJ23119, KIAA1790, Roco1, RIPK6 PARK8, ROCO2, DKFZp434H2111, FLJ45829, LRRK2 609007 RIPK7 LRRTM4 610870 FLJ12568 LRSAM1 610933 FLJ31641, CMT2P LRTOMT 612414 LRRC51, DFNB63, COMT2, CFAP111 LSS 600909 OSC LTBP2 602091 LTBP3, C14orf141 LTBP3 602090 LTBP2 LTBP4 604710 LTBP-4, LTBP-4L, FLJ46318, FLJ90018 LTC4S 246530 MGC33147 LUM 600616 LDC, SLRR2D LY96 605243 MD-2 LYN 165120 JTK8 LYRM4 613311 C6orf149, CGI-203, ISD11 LYRM7 615831 C5orf31, FLJ20796, MZM1L LYST 606897 CHS1, CHS LYZ 153450 LZTFL1 606568 BBS17 LZTR1 600574 LZTR-1, BTBD29 LZTS1 606551 FEZ1 MAB21L2 604357 KIAA0465, ACF7, ABP620, KIAA1251, MACF, MACF1 608271 FLJ45612, FLJ46776 MAD1L1 602686 HsMAD1, TXBP181, MAD1, PIG9, TP53I9 MAD2L2 604094 MAD2B, REV7, POLZ2, FANCV MADD 603584 DENN, KIAA0358, RAB3GEP MAF 177075 c-MAF MAFB 608968 KRML MAG 159460 GMA, SIGLEC4A, SIGLEC-4A, S-MAG JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MAGED2 300470 MGC8386

Page 64 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases MAGEL2 605283 NDNL1, nM15 NM_012301.3: 22 MAGI2 606382 AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2 NM_001301128.1: 21 MAGT1 300715 DKFZp564K142, IAP, OST3B, MRX95 MAK 154235 dJ417M14.2, RP62 MALT1 604860 MLT, PCASP1 MAML2 607537 KIAA1819, MAM3 MAMLD1 300120 CXorf6, CG1, F18 MAN1B1 604346 MANA-ER, MRT15, ERManI MAN2B1 609458 MANB, LAMAN MANBA 609489 MAOA 309850 MAOB 309860 MAP2K1 176872 PRKMK1, MEK1, MAPKK1 MAP2K2 601263 PRKMK2, MEK2 MAP3K1 600982 MEKK1, MEKK, MAPKKK1 MAP3K14 604655 NIK, HSNIK, FTDCR1B, HS MAP3K6 604468 MAPKKK6, ASK2, MEKK6 MAP3K7 602614 TAK1, MEKK7 MAP3K8 191195 COT, ESTF, Tpl-2, EST, c-COT, MEKK8 MAP4 157132 MAPK1 176948 PRKM2, PRKM1, ERK, ERK2, p41mapk, MAPK2 MAPK10 602897 PRKM10, JNK3, p493F12, p54bSAPK NM_005456.3: 3 MAPK8IP1 604641 PRKM8IP, IB1, JIP-1, JIP1 MAPKAP1 610558 MGC2745, SIN1, MIP1 MAPKAPK3 602130 3pK, MAPKAP3, 3PK MAPKBP1 616786 KIAA0596 MAPRE2 605789 RP1, EB1, EB2 DDPAC, MAPTL, MTBT1, tau, PPND, FTDP-17, MAPT 157140 TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103 MARKL1, Nbla00650, FLJ90097, KIAA1860, PAR- MARK4 606495 1D MARS 156560 MetRS, SPG70, CMT2U MARS2 609728 mtMetRS, SPAX3 MARVELD2 610572 MRVLDC2, DFNB49, FLJ30532, TRIC MASP1 600521 CRARF, PRSS5, MASP MASP2 605102 MASP1P1 MAST1 612256 SAST, KIAA0973 MASTL 608221 FLJ14813, THC2, Gwl MAT1A 610550 MAT, SAMS, MATA1, SAMS1 MAT2A 601468 SAMS2, MATA2, MATII MATN3 602109 EDM5, HOA MATN4 603897

Page 65 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases MATR3 164015 MPD2, KIAA0723, MGC9105, VCPDM MAX 154950 bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8 MBD1 156535 PCM1, CXXC3 MBD4 603574 MED1 MBD5 611472 FLJ11113, KIAA1461 MBD6 KIAA1887 MBL2 154545 MBL, COLEC1 MBNL1 606516 MBNL, KIAA0428, EXP42, EXP40, EXP35, EXP NM_001314057.1: 3 MBOAT7 606048 LENG4, BB1, hMBOA-7, LPLAT MBTPS2 300294 KFSD, S2P MC1R 155555 MSH-R MC2R 607397 ACTHR MC3R 155540 MC3 MC4R 155541 MCC 159350 MCCC1 609010 MCCA MCCC2 609014 MCCB MCEE 608419 GLOD2 MCF2L 609499 KIAA0362, DBS, OST, ARHGEF14 MCFD2 607788 F5F8D, LMAN1IP, SDNSF MCHR1 601751 GPR24, SLC1, MCH1R MCIDAS 614086 MCIN, MCI, IDAS CCNL1, CDCL1, D3S3194, KIAA0030, BM28, MCM2 116945 cdc19, DFNA70 MCM3AP 603294 Map80, KIAA0572, GANP, SAC3 MCM4 602638 CDC21, CDC54, hCdc21, P1-Cdc21, MGC33310 MCM6 601806 Mis5 MCM7 600592 MCM2, CDC47, PPP1R104 C20orf154, MGC4816, MGC12866, MCM8 608187 MGC119522, MGC119523, dJ967N21.5, REC MCMDC1, C6orf61, MGC35304, dJ329L24.3, MCM9 610098 FLJ20170 TRPML1, ML4, MLIV, MST080, MSTP080, TRPM- MCOLN1 605248 L1 MCPH1 607117 FLJ12847, BRIT1 NM_001322042.1: 14 MCTP2 616297 FLJ11175, FLJ33303 MDH2 154100 MDM2 164785 HDM2, MGC5370 ME2 154270 MECOM 165215 MDS1, EVI1, MDS1-EVI1, PRDM3, KMT8E MECP2 300005 RTT, MRX16, MRX79 MECR 608205 CGI-63, NRBF1, FASN2B, ETR1

Page 66 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases TNRC11, FGS1, CAGH45, HOPA, OPA1, MED12 300188 TRAP230, KIAA0192, OKS MED13L 608771 THRAP2, KIAA1025, TRAP240L MED17 603810 CRSP6, CRSP77, TRAP80, DRIP80, SRB4 MED20 612915 TRFP, DKFZp586D2223, PRO0213, SRB2 MED23 605042 CRSP3, CRSP130, DRIP130, Sur2 MED25 610197 ARC92, ACID1, TCBAP0758, DKFZp434K0512 MEF2A 600660 RSRFC4, RSRFC9 MEF2C 600662 MEFV 608107 MEF, FMF, TRIM20 GTL2, NCRNA00023, LINC00023, onco-lncRNA- MEG3 605636 83 MEGF10 612453 KIAA1780 MEGF8 604267 EGFL4, C19orf49, SBP1, FLJ22365 MEIS1 601739 MEIS2 601740 MRG1, HsT18361 MEN1 613733 MEOX1 600147 MOX1 MEOX2 600535 GAX, MOX2 MERTK 604705 mer, RP38, c-Eyk, Tyro12 MESP1 608689 MGC10676, bHLHc5 MESP2 605195 SCDO2, bHLHc6 MET 164860 HGFR, RCCP2, DFNB97 METTL21A 615257 FAM119A, LOC151194, HCA557b, HSPA-KMT METTL23 615262 C17orf95, LOC124512 MFAP5 601103 MAGP2, MP25 MFF 614785 C2orf33, GL004 SPAG10, SED1, EDIL1, BA46, OAcGD3S, MFGE8 602281 HsT19888, MFG-E8, hP47 MFN2 608507 CPRP1, KIAA0214, MARF, CMT2A2 MFRP 606227 FLJ30570, rd6, NNO2, C1QTNF5 MFSD2A 614397 MFSD2, FLJ14490 MFSD8 611124 CLN7, MGC33302 NM_004668.2: 35 MGAM 154360 MGA MGAT2 602616 GNT-II MGLL 609699 HU-K5, MGL MGME1 615076 C20orf72, bA504H3.4, DDK1 MGMT 156569 MGP 154870 MGST2 601733 MGST-II MIA 601340 CD-RAP MIB1 608677 DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6 MICA 600169 PERB11.1

Page 67 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases MICOS13 616658 C19orf70, QIL1, P117, MIC13 MICU1 605084 CBARA1, CALC, EFHA3, FLJ12684 MID1 300552 OS, FXY, TRIM18, RNF59 MID2 300204 FXY2, TRIM1, RNF60, MRX101 MINPP1 605391 MIPP MIP 154050 MP26, LIM1, AQP0 MIPEP 602241 MIP MIR125A 611191 MIRN125A, hsa-mir-125a MIRN146, MIRN146A, hsa-mir-146, hsa-mir- MIR146A 610566 146a C13orf25, MIRHG1, FLJ14178, MIRH1, MIHG1, MIR17HG 609415 NCRNA00048, miR-17-92, LINC00048 MIR184 613146 MIRN184, hsa-mir-184 MIR2861 613405 hsa-mir-2861 MIR30C1 615151 MIRN30C1, hsa-mir-30c-1 MIR3142HG MIR770 MIRN770, hsa-mir-770 MIR96 611606 MIRN96, DFNA50, hsa-mir-96 MITF 156845 WS2A, WS2, MI, bHLHe32 MKKS 604896 BBS6 MKRN3 603856 ZNF127, D15S9, RNF63, ZFP127, MGC88288 MKS1 609883 MKS, FLJ20345, POC12, BBS13 MLC1 605908 MLC, KIAA0027, LVM, VL MLH1 120436 COCA2, HNPCC, FCC2, HNPCC2 MLH3 604395 MLLT10 602409 AF10 NM_001195627.1: 4 MLPH 606526 l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3 MLST8 612190 Lst8, Pop3, GBL, GbetaL MLYCD 606761 MCD, hMCD MMAA 607481 cblA MMAB 607568 cblB, CFAP23 MMACHC 609831 DKFZP564I122, cblC MMADHC 611935 C2orf25, CL25022, cblD MME 120520 CALLA, CD10, NEP MMEL1 618104 MMEL2, SEP, NL1, NL2, NEPII MMGT1 TMEM32, EMC5 MMP1 120353 CLG MMP13 600108 CLG3 MMP14 600754 MT1-MMP MMP19 601807 MMP18, RASI-1 MMP2 120360 CLG4, CLG4A, TBE-1 MMP20 604629 MMP21 608416

Page 68 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases NM_006983.1: 2-8 MMP23B 603321 MMP22, MIFR, MIFR-1 MMP25 608482 MMPL1, MMP20, MT6-MMP MMP9 120361 CLG4B MMS22L 615614 C6orf167, dJ39B17.2 MMUT 609058 MUT, MCM MN1 156100 MGCR, MGCR1-PEN, MGCR1 NM_005515.3: 1 MNX1 142994 HLXB9, HB9, HOXHB9, SCRA1 PREI3, MOBKL3, MOB3, DKFZP564M112, CGI- MOB4 609361 95, 2C4D, PHOCN MOBP 600948 MOCOS 613274 HMCS, FLJ20733, MOS MOCS1 603707 MOCOD MOCS2 603708 MOCO1, MOCS2A, MOCS2B MOG 159465 BTN6, BTNL11 MOGS 601336 GCS1, CWH41, DER7 MORC2 616661 ZCWCC1, ZCW3, KIAA0852, AC004542.C22.1 MOS 190060 MOV10 610742 gb110, MGC2948, fSAP113 MPC1 614738 BRP44L, dJ68L15.3, CGI-129, SLC54A1 MPDU1 604041 SL15, Lec35, PQLC5, CDGIf, SLC66A5 MPDZ 603785 MUPP1 MPI 154550 MPL 159530 CD110, TPOR MPLKIP 609188 C7orf11, ORF20, TTDN1 MPO 606989 MPP2 600723 DLG2, DKFZp761D0712 MPP3 601114 DLG3 MPV17 137960 SYM1 MPZ 159440 CMT1, CMT1B, HMSNIB, CMT2I, CMT2J MR1 600764 HLALS MRAP 609196 C21orf61, B27, FALP MRAP2 615410 C6orf117, bA51G5.2 MRAS 608435 M-RAs, R-RAS3, RRAS3 MRE11 600814 MRE11A, ATLD MRI1 615105 MGC3207, Ypr118w, mtnA, MRDI RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MRPL10 611825 MGC17973 MRPL12 602375 RPML12, MRPL7/L12, MRPL7 MRPL3 607118 RPML3, MRL3 MRPL33 610059 C2orf1, RPL33L MRPL44 611849 FLJ12701, FLJ13990 MRPS16 609204 CGI-132 MRPS22 605810 MRP-S22, GK002, C3orf5, GIBT

Page 69 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases MRPS23 611985 MRP-S23, CGI-138, HSPC329 MRPS7 611974 MRP-S, RP-S7, RPMS7 MRTFA 606078 MKL1, KIAA1438, MAL, MRTF-A, BSAC, MKL MS4A1 112210 CD20, B1, Bp35, MS4A2 MS4A2 147138 FCER1B, IGER, APY, MS4A1 MS4A6A 606548 MS4A6, CD20L3 MS4A6E 608402 MS4A7 606502 CD20L4, CFFM4, MS4A8 MSH2 609309 COCA1, HNPCC, HNPCC1 MSH3 600887 DUP, MRP1 MSH4 602105 MSH5 603382 G7 MSH6 600678 GTBP MSMO1 607545 SC4MOL, DESP4, ERG25 MSN 309845 MSR1 153622 SCARA1, CD204, SR-AI, SR-AII, SR-AIII, SR-A MSRB3 613719 DFNB74, FLJ36866, DKFZp686C1178 MST1R 600168 RON, PTK8, CDw136, CD136 MSTN 601788 GDF8

NM_018116.3: 1-3, 6-7, 13-14 MSTO1 NM_001256533.1: 1-3, 6-7, 13-14 617619 FLJ10504, LST005, MST, misato NM_001256532.1: 1-3, 6-7, 13-14

MSX1 142983 HOX7, HYD1, OFC5 MSX2 123101 PFM1, CRS2, FPP, HOX8, MSH, PFM MTAP 156540 MSAP, c86fus MTCP1 300116 P13MTCP1, p8MTCP1 MTFMT 611766 FMT1 MTHFD1 172460 MTHFC, MTHFD MTHFD1L 611427 FTHFSDC1, DKFZP586G1517, FLJ21145 MTHFD2 604887 MTHFD2L 614047 MGC72244 MTHFR 607093 MTHFS 604197 HsT19268 MTM1 300415 MTMR1 300171 MTMR14 611089 C3orf29, FLJ22405, FLJ90311, hJumpy, hEDTP MTMR2 603557 CMT4B, KIAA1073 MTNR1A 600665 MEL-1A-R MTNR1B 600804 MTO1 614667

Page 70 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases

MTOR 601231 FRAP, FRAP2, FRAP1, RAFT1, RAPT1, FLJ44809 MTPAP 613669 PAPD1, FLJ10486, mtPAP, SPAX4, TENT6 MTR 156570 cblG MTRR 602568 cblE MTSS1L 616951 ABBA-1, LOC92154, ABBA MTTP 157147 MTP, ABL PUM, MCKD1, CD227, PEM, ADMCKD, MUC1 NM_001204286.1: 3 158340 ADMCKD1, MCKD, MCD NM_001204285.1: 3 NM_002458.2: 31 MUC5B 600770 MUC5, MG1 MUSK 601296 MUTYH 604933 MYH MVD 603236 MPD MVK 251170 LRBP, MK MXI1 600020 MXD2, MAD2, MXI, bHLHc11 MXRA8 617293 DKFZp586E2023 MYB 189990 c-myb MYBPC1 160794 MYBPC3 600958 CMH4, MYBP-C, FHC MYC 190080 c-Myc, bHLHe39, MYCC MYCBP2 610392 PAM, KIAA0916, FLJ10106 MYCN 164840 NMYC, bHLHe37, N-myc, MYCNOT MYD88 602170 MYF6 159991 MRF4, bHLHc4 MYH10 160776 NMMHCB MYH11 160745 SMMHC, SMHC NM_003802.2: 5 MYH13 603487 MyHC-eo

MYH14 608568 DFNA4, FLJ13881, KIAA2034, MHC16, MYH17 MYH15 609929 KIAA1000 NM_017534.5: 23 IBM3, MYH2A, MYHSA2, MyHC-IIa, MYHas8, MYH2 160740 NM_001100112.1: 23 MyHC-2A MYH3 160720 MYHC-EMB, MYHSE1, HEMHC, SMHCE NM_002471.3: 26 MYH6 160710 NM_000257.3: 27 MYH7 160760 CMH1, MPD1, CMD1S MYH7B 609928 KIAA1512, dJ756N5.1, MYH14, MHC14 NM_002472.2: 5 MYH8 160741 MyHC-peri, MyHC-pn DFNA17, NMMHCA, NMHC-II-A, MHA, FTNS, MYH9 160775 EPSTS MYL2 160781 CMH10

Page 71 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases MYL3 160790 CMH8, VLC1, MLC1V, MLC1SB MYL4 160770 ALC1, AMLC, GT1, PRO1957 MYL9 609905 MYRL2, MLC2, LC20, MRLC1 MYLIP 610082 MIR, IDOL MYLK 600922 MLCK, smMLCK, MYLK1, MLCK1 MYLK2 606566 skMLCK, KMLC, MLCK2 MYO15A 602666 DFNB3, MYO15 MYO18B 607295 BK125H2.1 MYO1A 601478 MYHL, DFNA48 MYO1C 606538 myr2 MYO1E 601479 MYO1C, HuncM-IC, MGC104638 MYO1F 601480 MYO3A 606808 DFNB30 MYO5A 160777 MYH12, MYO5, GS1, MYR12 MYO5B 606540 KIAA1119 MYO6 600970 DFNA22, DFNB37, KIAA0389 MYO7A 276903 USH1B, DFNB2, DFNA11, NSRD2 MYO9A 604875 FLJ11061, FLJ13244, MGC71859 MYOC 601652 GLC1A, TIGR, JOAG1 MYOCD 606127 MYCD MYOD1 159970 MYF3, PUM, MYOD, bHLHc1 MYOM1 603508 MYOM2 603509 MYOT 604103 TTID, LGMD1A, LGMD1 MYOZ2 605602 C4orf5, CS-1, FATZ-2 MYPN 608517 MYOP MYT1 600379 PLPB1, MTF1, MYTI, ZC2HC4A, NZF2, ZC2H2C1 MYT1L 613084 KIAA1106, NZF1, ZC2HC4B, ZC2H2C2 NAA10 300013 ARD1, ARD1A, DXS707, TE2 NAA15 608000 NARG1, TBDN100, NATH, FLJ13340 NADK2 615787 C5orf33, NADKD1, FLJ30596, MNADK NAF1 617868 NAGA 104170 D22S674 NAGLU 609701 NAG NAGPA 607985 APAA, UCE NAGS 608300 AGAS, ARGA, NAT7 NALCN 611549 VGCNL1, bA430M15.1, CanIon NM_005746.2: 11 NAMPT 608764 PBEF1, PBEF NANOS1 608226 NOS1, ZC2HC12A NANOS3 608229 NANOS1L, NOS3, ZC2HC12C NANS 605202 SAS NARS2 612803 DFNB94, FLJ23441, SLM5 hALP, FLJ10774, FLJ12179, NET43, KIAA1709, NAT10 609221 Kre33

Page 72 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases NAT2 612182 AAC2 NAT8 606716 Hcml1, TSC501, GLA, ATase2 NAT8L 610647 FLJ37478, Hcml3 APOA1BP, AIBP, MGC119143, MGC119144, NAXE 608862 MGC119145, YJEFN1 NBAS 608025 NAG NBEAL2 614169 KIAA0540 NBN 602667 NBS, NBS1, ATV, AT-V2, AT-V1 NCAPD2 615638 CNAP1, hCAP-D2, CAP-D2, KIAA0159 hCAP-D3, CAP-D3, hHCP-6, KIAA0056, NCAPD3 609276 FLJ42888, hcp-6 NCAPH 602332 BRRN1, CAP-H, hCAP-H NCF2 608515 p67phox, NOXA2 NCF4 601488 p40phox, SH3PXD4 KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NCOA6 605299 NRC NCS1 603315 FREQ, NCS-1 NCSTN 605254 KIAA0253, APH2 NDE1 609449 nudE, FLJ20101, NDE NDN 602117 HsT16328, PWCR NDP 300658 EVR2, norrin NDRG1 605262 CAP43, DRG1, RTP, TDD5, NDR1 NDRG4 614463 KIAA1180, SMAP-8 NDST1 600853 HSST, NST1 NDUFA1 300078 MWFE, CI-MWFE NDUFA10 603835 CI-42k NDUFA11 612638 B14.7 NDUFA12 614530 DAP13, B17.2 NDUFA13 609435 CGI-39, CDA016, GRIM-19, GRIM19, B16.6 NDUFA2 602137 B8 NDUFA4 603833 MLRQ, CI-9k, COXFA4 NDUFA7 602139 B14.5a NDUFA8 603359 PGIV, MGC793 NDUFA9 603834 NDUFS2L, SDR22E1, CI-39k NDUFAF1 606934 CIA30, CGI-65 NDUFAF2 609653 NDUFA12L, B17.2L, MMTN, mimitin C3orf60, MGC10527, DKFZP564J0123, E3-3, NDUFAF3 612911 2P1 C6orf66, HSPC125, bA22L21.1, My013, NDUFAF4 611776 HRPAP20 NDUFAF5 612360 C20orf7, dJ842G6.1 NDUFAF6 612392 C8orf38, MGC40214 NDUFAF7 615898 C2orf56, PRO1853, MidA NDUFB11 300403 ESSS, NP17.3, Np15 NDUFB3 603839 B12 NDUFB8 602140 ASHI, CI-ASHI

Page 73 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases NDUFB9 601445 B22, UQOR22, LYRM3 NDUFS1 157655 CI-75k NDUFS2 602985 CI-49 NDUFS3 603846 CI-30 NDUFS4 602694 AQDQ, CI-18 NDUFS6 603848 CI-13kA NDUFS7 601825 PSST, FLJ46880, FLJ45860, CI-20 NDUFS8 602141 TYKY, CI-23k NDUFV1 161015 CI-51K NDUFV2 600532 CI-24k NDUFV3 602184 CI-10k NM_001271208.1: 82-105 NEB NM_001164508.1: 82-105 161650 NEM2, NEB177D NM_001164507.1: 82-105 NEBL 605491 LASP2, LNEBL NECAP1 611623 DKFZP566B183 HVEC, ED4, PVRL1, PRR, PRR1, PVRR1, SK-12, NECTIN1 600644 HIgR, CLPED1, CD111, OFC7 NECTIN4 609607 PVRL4, nectin-4, PRR4, LNIR NEDD4 602278 KIAA0093, MGC176705, NEDD4-1, RPF1 NEDD4L 606384 KIAA0439, RSP5, NEDD4-2 NEDD9 602265 HEF1, CAS-L, CASS2 NEFH 162230 NEFL 162280 NFL, CMT1F, CMT2E, NF68, PPP1R110 NEFM 162250 NEF3, NFM, NF-M NEIL1 608844 FLJ22402, hFPG1, NEI1, FPG1 NEIL2 608933 NEH2, FLJ31644, MGC2832, MGC4505 NEK1 604588 NY-REN-55, KIAA1901 NEK11 609779 FLJ23495 NM_001321221.1: 5 NEK2 604043 NLK1, NEK2A, RP67, PPP1R111 NM_001204182.1: 8 NEK8 609799 NPHP9 NEK9 609798 Nek8, NERCC, DKFZp434D0935, MGC16714 NELL1 602319 IDH3GL, FLJ45906 NEU1 608272 NEU NEUROD, BETA2, BHF-1, NeuroD, bHLHa3, NEUROD1 601724 MODY6 NEUROG3 604882 Atoh5, Math4B, ngn3, bHLHa7 NEXMIF 300524 KIAA2022, XPN, MRX98, KIDLIA NEXN 613121 nexilin, NELIN NF1 613113 NF2 607379 merlin, ACN, SCH, BANF TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF- NFAT5 604708 AT5 NFATC1 600489 NF-ATC, NFATc, NFAT2

Page 74 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases NFIA 600727 NFI-L, KIAA1439 NFIX 164005 NF1A NM_002501.3: 1 KBF1, p105, NFKB-p50, p50, NF-kappaB, NFKB1 164011 NFkappaB, NF-kB1 NFKB2 164012 LYT-10, p52, p105, NF-kB2, p49/p100 NFKBIA 164008 NFKBI, IKBA, MAD-3, IkappaBalpha NFS1 603485 NifS, IscS NFU1 608100 HIRIP5, CGI-33, NifU, NIFUC NFXL1 HOZFP NGF 162030 NGFB NGFR 162010 TNFRSF16, CD271, p75NTR NGLY1 610661 FLJ11005, PNG1 NHEJ1 611290 Cernunnos, XLF, FLJ12610 NHLRC1 608072 bA204B7.2, EPM2B NHP2 606470 NOLA2, FLJ20479 NHS 300457 NID1 131390 NID, entactin NIN 608684 NIPA1 608145 SPG6, MGC35570, SLC57A1 NIPA2 608146 SLC57A2 NIPAL4 609383 ICHYN IDN3, DKFZp434L1319, FLJ11203, FLJ12597, NIPBL 608667 FLJ13354, FLJ13648, Scc2 DKFZp564D177, FLJ13953, HSPC299, NIPSNAP3A 608871 MGC14553 NKX2-1 600635 NKX2A, BCH, TITF1, TTF-1, TTF1 NKX2-2 604612 NKX2B, NKX2.2 NKX2-5 600584 CSX, NKX2E, CSX1, NKX2.5, NKX4-1 NKX2-6 611770 CSX2, NKX4-2 NKX3-2 602183 BAPX1, NKX3B, NKX3.2 NLGN1 600568 KIAA1070 NLGN2 606479 KIAA1366 NLGN3 300336 HNL3, KIAA1480, ASPGX1, AUTSX1 NM_020742.3: 5 NM_001282146.1: 5 NLGN4X 300427 NLGN4, KIAA1260, NLGN, HLNX NM_181332.2: 5 NM_001282145.1: 6 NM_021209.4: 2 NM_001199139.1: 2 CARD12, CLAN1, ipaf, CLANA, CLANB, CLANC, NLRC4 606831 NM_001199138.1: 2 CLAND, CLR2.1, CLAN NM_001302504.1: 2 NALP1, SLEV1, KIAA0926, DKFZp586O1822, NLRP1 606636 CARD7, NAC, CLR17.1, DEFCAP, VAMAS1

Page 75 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases NALP12, RNO2, PYPAF7, Monarch1, PAN6, NLRP12 609648 CLR19.3 NALP14, NOD5, GC-LRR, Nalp-iota, PAN8, NLRP14 609665 CLR11.2 NALP2, FLJ20510, PYPAF2, NBS1, PAN1, NLRP2 609364 CLR19.9 C1orf7, CIAS1, DFNA34, AGTAVPRL, AII, AVP, NLRP3 606416 FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1 NLRP5 609658 NALP5, PYPAF8, MATER, PAN11, CLR19.8 NLRP7 609661 NALP7, PYPAF3, NOD12, PAN7, CLR19.4 NME1 156490 NM23, NM23-H1, NDPKA NME7 613465 FLJ37194, NM23-H7, CFAP67 NME8 607421 TXNDC3, CILD6, SPTRX2, NM23-H8 NMNAT1 608700 LCA9, NMNAT, PNAT1 NNT 607878 NOBOX 610934 OG2, Og2x NOD1 605980 CARD4, NLRC1, CLR7.1 IBD1, CARD15, BLAU, CD, PSORAS1, CLR16.3, NOD2 605956 NLRC2 NODAL 601265 NOG 602991 SYNS1, SYM1 NOL3 605235 ARC, NOP30, MYP, CARD2 NONO 300084 NRB54, NMT55, P54NRB, P54, PPP1R114 NOP10 606471 NOLA3, NOP10P, MGC70651 NOP56 614154 NOL5A, SCA36 NOS1 163731 NOS, nNOS NOS1AP 605551 KIAA0464, CAPON NOS2 163730 NOS2A, iNOS, NOS, HEP-NOS NOS3 163729 ECNOS, eNOS NOTCH1 190198 TAN1 NM_024408.3: 1-4 NOTCH2 600275 NM_001200001.1: 1-4 NM_000435.2: 1 NOTCH3 600276 CADASIL, CASIL NOX1 300225 NOH1, NOH-1, MOX1, GP91-2 NPAS2 603347 MOP4, PASD4, bHLHe9 NPAT 601448 E14, p220 NPC1 607623 SLC65A1 NPC1L1 608010 SLC65A2 NPC2 601015 HE1, NP-C2, EDDM1 NM_006310.3: 1-12 NPEPPS 606793 PSA, MP100 NM_001330257.1: 1-13 NPHP1 607100 NPH1, JBTS4, SLSN1 NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, NPHP3 608002 SLSN3, CFAP31

Page 76 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases NPHP4 607215 SLSN4, KIAA0673, POC10 NPHS1 602716 CNF, NPHN NPHS2 604766 SRN1, PDCN NPM1 164040 B23, NPM NPPA 108780 ANP, PND NPR2 108961 ANPRB, NPRB, AMDM, GUCY2B, ANPb NPRL2 607072 TUSC4, NPR2L, NPR2 C16orf35, CGTHBA, RMD11, NPR3, MARE, HS- NPRL3 600928 40 NQO1 125860 NMOR1, DIA4, DHQU, QR1, DTD NR0B1 300473 AHC, DSS, DAX1, AHCH NR0B2 604630 SHP BD73, RVR, EAR-1r, HZF2, Hs.37288, REVERBB, NR1D2 602304 REVERBbeta NR1H3 602423 LXR-a, RLD-1, LXRa NR1H4 603826 FXR, RIP14, HRR1, HRR-1 NR1I2 603065 ONR1, PXR, BXR, SXR, PAR2 NR1I3 603881 MB67, CAR1, CAR NR2E1 603849 TLX, TLL, XTLL NR2E3 604485 PNR, rd7, RP37 ERBAL3, TFCOUP1, EAR-3, COUP-TFI, NR2F1 132890 TCFCOUP1, SVP44, COUPTF1 ARP1, TFCOUP2, COUP-TFII, COUPTFB, SVP40, NR2F2 107773 NF-E3, COUPTF2 NR3C1 138040 GRL, GR NR3C2 600983 MLR, MR NR4A2 601828 NURR1, TINUR, NOT, RNR1, HZF-3 NR4A3 600542 CSMF, CHN, NOR1, MINOR NR5A1 184757 FTZF1, FTZ1, SF-1, ELP, AD4BP, hSF-1, SF1 NRAS 164790 N-ras NRG1 142445 HGL, NRG1-IT2, HRG, NDF, GGF NRGN 602350 RC3 NRL 162080 D14S46E, RP27, NRL-MAF NRP1 602069 NRP, VEGF165R, CD304 NRTN 602018 NTN NRXN1 600565 KIAA0578, Hs.22998 NRXN2 600566 NRXN3 600567 C14orf60, KIAA0743 NSD1 606681 STO, ARA267, FLJ22263, KMT3B NSD2 602952 WHSC1, MMSET, KMT3G NSD3 607083 WHSC1L1, FLJ20353, WHISTLE, KMT3F NSDHL 300275 XAP104, H105e3, SDR31E1 NSMCE2 617246 C8orf36, FLJ32440, MMS21, NSE2, ZMIZ7 NSMCE3 608243 NDNL2, HCA4, MAGEG1, MAGEL3, NSE3 NSMF 608137 NELF NSUN2 610916 MRT5, FLJ20303, TRM4, Misu

Page 77 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases NSUN3 617491 FLJ22609 NSUN7 617185 FLJ14001 NT5C2 600417 NT5B, PNT5, GMP, cN-II, SPG65 NT5C3, UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN- NT5C3A 606224 III, p36, POMP, hUMP1 NT5E 129190 NT5, CD73, eN, eNT, CALJA NTF4 162662 NTF5, NT-4/5, GLC1O NTHL1 602656 NTH1, OCTS3 NTNG1 608818 KIAA0976, Lmnt1 NTRK1 191315 TRK, TRKA, MTC NTRK2 600456 TRKB NTRK3 191316 TRKC NUB1 607981 BS4, NYREN18, NUB1L NUBPL 613621 C14orf127, FLJ12660, IND1, huInd1 NUDC 610325 NudC NUDT15 615792 MTH2, FLJ10956 NUMA1 164009 NUP107 607617 NUP84 NUP155 606694 KIAA0791, N155 NUP205 614352 C7orf14, KIAA0225 NUP214 114350 CAIN, CAN, D9S46E, N214 p62, DKFZp547L134, IBSN, SNDI, MGC841, NUP62 605815 FLJ20822, FLJ43869 NUP93 614351 KIAA0095 NM_138459.3: 1, 5 NUS1 610463 C6orf68, MGC7199, NgBR, TANGO14 NM_032946.2: 7, 10-13 NXF5 300319 NXNL1 608791 TXNL6, RDCVF NXPH2 604635 NPH2 NXPH3 604636 NPH3 NYX 300278 CSNB1, CSNB4, CLRP, CSNB1A OARD1 614393 C6orf130, MGC19570, dJ34B21.3, TARG1 OAT 613349 HOGA OBSCN 608616 KIAA1556, UNC89, KIAA1639, ARHGEF30 OBSL1 610991 KIAA0657 D15S12, P, EYCL3, EYCL2, BEY2, EYCL, BEY, OCA2 611409 BEY1 NM_002538.3: 5-9 OCLN NM_001205255.1: 3-7 602876 PPP1R115 NM_001205254.1: 5-9 OCRL 300535 OCRL1 ODAPH 614829 C4orf26, FLJ23657, AI2A4 ODC1 165640 ODC OFD1 300170 CXorf5, RP23, 71-7A, JBTS10 OGDHL 617513 FLJ10851

Page 78 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases OGG1 601982 HMMH, HOGG1, OGH1, MUTM O-GLCNAC, HRNT1, MGC22921, FLJ23071, OGT 300255 OGT1 OLFM2 617492 OlfC, NOE2 OLR1 602601 LOX-1, SCARE1, CLEC8A OMG 164345 OMGP OPA1 605290 NTG, KIAA0567, FLJ12460, NPG, MGM1 OPA3 606580 FLJ22187, MGA3 OPCML 600632 OPCM, OBCAM, IGLON1 OPHN1 300127 MRX60, OPN1, ARHGAP41 OPLAH 614243 OPLA, 5-Opase NM_020061.5: 1, 4-6 OPN1LW 300822 CBBM, RCP, CBP, COD5 OPN1SW 613522 BCP, BOP, CBT OPRD1 165195 OPRK1 165196 KOR, OPRK OPRM1 600018 MOR1 OPTC 605127 OPTN 602432 GLC1E, FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7 OR2W3 616729 OR2W8P, OR2W3P, OST718 ORAI1 610277 TMEM142A, FLJ14466, CRACM1 ORC1 601902 ORC1L, HSORC1, PARC1 ORC4 603056 ORC4L, HsORC4, Orc4p ORC6 607213 ORC6L OSBPL2 606731 KIAA0772, ORP-2, DFNA67 OSMR 601743 OSMRB OSTM1 607649 HSPC019, GL OTC 300461 NM_144672.3: 20-28 OTOA NM_001161683.1: 16-24 607038 DFNB22, CT108 NM_170664.2: 11-19 OTOF 603681 DFNB9, FER1L2, DFNB6 OTOG 604487 mlemp, OTGN, FLJ46346 OTOGL 614925 C12orf64, FLJ90579 OTOR 606067 MIAL, MIAL1, FDP OTUD4 611744 HSHIN1, KIAA1046, DUBA6 OTULIN 615712 FAM105B, FLJ34884 OTX2 600037 OVOL2 616441 ZNF339, CHED1, bA504H3.3, HOVO2, CHED OXCT1 601424 OXCT, SCOT OXTR 167055 P2RX1 600845 P2X1 P2RX2 600844 DFNA41, P2X2 P2RX7 602566 P2X7, MGC20089 P2RY11 602697 P2Y11

Page 79 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases P2RY12 600515 P2Y12, SP1999, HORK3 P3H1 610339 LEPRE1, GROS1, LEPRECAN, MGC117314 P3H2 610341 LEPREL1, FLJ10718, MLAT4 P4HA2 600608 C-P4Halpha(II) PO4DB, ERBA2L, PDIA1, PROHB, DSI, GIT, PDI, P4HB 176790 PO4HB, P4Hbeta PABPN1 602279 OPMD, PABP2, PAB2 NM_152410.2: 6 PACRG 608427 PARK2CRG, FLJ32724, Glup, HAK005771 PACS1 607492 FLJ10209, KIAA1175 PADI3 606755 PDI3 PADI6 610363 PAFAH1B1 601545 MDCR, MDS, LIS1, PAFAH, NudF PAFAH1B2 602508 PAH 612349 PH PAK3 300142 MRX30, MRX47, hPAK3, bPAK PALB2 610355 FLJ21816, FANCN PALLD 608092 KIAA0992, SIH002, CGI-151 PAM16 614336 Magmas, Tim16, TIMM16 PANK2 606157 C20orf48, NBIA1, HSS, FLJ11729, PKAN, HARP PANX1 608420 MRS1, UNQ2529, PX1 PAPPA2 PLAC3, PAPPE, PAPP-A2 PAPSS2 603005 ATPSK2 PARK7 602533 DJ-1, DJ1, GATD2 PARL 607858 PSARL, PRO2207, PSARL1, RHBDS1 PARN 604212 DAN PARP1 173870 PPOL, ADPRT, PARP PARP10 609564 FLJ14464 PARS2 612036 DKFZp727A071 PASK 607505 PASKIN, KIAA0135, STK37 PAX1 167411 PAX2 167409 PAX3 606597 WS1, HUP2 PAX4 167413 MODY9 PAX5 167414 BSAP PAX6 607108 AN2, D11S812E, AN, WAGR PAX7 167410 Hup1 PAX8 167415 PAX9 167416 PBRM1 606083 BAF180, PB1 PC 608786 PCB PCARE 613425 C2orf71, FLJ34931, RP54 PCBD1 126090 DCOH, PCBD, PCD PCCA 232000 PCCB 232050

Page 80 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases PCDH12 605622 VE-cadherin-2 PCDH15 605514 USH1F, DFNB23, CDHR15 PCDH19 300460 EFMR, KIAA1313, EIEE9 PCDHA3 606309 PCDH-ALPHA3 PCDHB4 606330 PCDH-BETA4 PCK1 614168 PEPCK-C PCK2 614095 PEPCK, PEPCK2 PCLO 604918 KIAA0559, DKFZp779G1236, ACZ PCM1 600299 PTC4 PCNA 176740 PCNT 605925 PCNT2, KEN, KIAA0402, PCN, PCNTB, SCKL4 PCOLCE2 607064 PCPE2 PCSK1 162150 NEC1, PC1, PC3, SPC3 NM_004716.3: 13-17 PCSK7 604872 PC7, PC8, LPC, SPC7 PCSK9 607786 HCHOLA3, NARC-1, FH3 PCYT1A 123695 PCYT1, CT, CTPCT PDCD1 600244 SLEB2, CD279, PD1, hSLE1, PD-1 PDCD10 609118 CCM3, TFAR15 PDE10A 610652 PDE11A 604961 PDE3A 123805 CGI-PDE PDE4D 600129 DPDE3 PDE5A 603310 PDE6A 180071 PDEA, RP43 PDE6B 180072 PDEB, CSNB3, rd1, RP40, CSNBAD2 PDE6C 600827 PDEA2, ACHM5, COD4 PDE6D 602676 JBTS22 PDE6G 180073 PDEG, RP57 PDE6H 601190 PDE8B 603390 PDGFB 190040 SIS, SSV PDGFRA 173490 CD140a, PDGFR2, GAS9 PDGFRB 173410 PDGFR, JTK12, CD140b, PDGFR1 PDGFRL 604584 PRLTS PDHA1 300502 PDHA PDHB 179060 PDHE1B PDHX 608769 E3BP, proX, PDX1, OPDX, DLDBP NM_005313.4: 1 GRP58, P58, ERp61, ERp57, ERp60, GRP57, PI- PDIA3 602046 PLC, HsT17083 PDK3 300906 PDLIM3 605889 ALP PDP1 605993 PPM2C, PDP, PDH, PPM2A

Page 81 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases NM_001261816.1: 1-10 PDPK1 NM_002613.4: 1-10 605213 PDK1 NM_031268.5: 1-7 NM_017990.4: 3-17 NM_001322118.1: 2-15 PDPR 617835 PDP3 NM_001322117.1: 3-17 NM_001322119.1: 9-15 NM_014317.4: 2 PDSS1 607429 TPRT, TPT, COQ1 NM_001321978.1: 2 PDSS2 610564 C6orf210, bA59I9.3 PDX1 600733 IPF1, IDX-1, STF-1, PDX-1, MODY4 C21orf97, C21orf124, PNK, PKH, FLJ21324, PDXK 179020 PRED79, FLJ31940, MGC15873 PDYN 131340 SCA23, PENKB, ADCA PDZD7 612971 PDZK7, DFNB57, FLJ23209, bA108L7.8 PDZRN3 609729 KIAA1095, SEMACAP3, LNX3 PEAR1 610278 MEGF12, JEDI, FLJ00193 PECR 605843 HSA250303, TERP, SDR29C1 PEPD 613230 PER2 603426 KIAA0347 PER3 603427 PET100 614770 C19orf79 PEX1 602136 ZWS1, ZWS PEX10 602859 RNF69 PEX11B 603867 PEX12 601758 PEX13 601789 PEX14 601791 PEX16 603360 PEX19 600279 PXF, HK33, D1S2223E, PMP1, PMPI, PXMP1 PEX2 170993 PXMP3, PMP35, PAF-1, RNF72, ZWS3 PEX26 608666 FLJ20695 PEX3 603164 PEX5 600414 PXR1, PTS1R PEX6 601498 PXAAA1, PAF-2 PEX7 601757 PTS2R, RD PFKL 171860 PFKM 610681 PFKX, PFK-1, PPP1R122 PFN1 176610 NM_002629.3: 2-4 PGAM1 172250 PGAMA, PGAM-B NM_001317079.1: 2-4 PGAM2 612931 PGAM-M PGAP1 611655 FLJ12377, Bst1, SPG67 PGAP2 615187 MRT21, FRAG1, CWH43-N PGAP3 611801 PERLD1, MGC9753, CAB2, PP1498, PER1

Page 82 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases PGBD1 HUCEP-4, dJ874C20.4, SCAND4 PGC 169740 PGK1 311800 PGM1 171900 PGM3 172100 AGM1, DKFZP434B187, PAGM PGR 607311 PR, NR3C3 PGRMC1 300435 HPR6.6 PHB 176705 PHB1 NM_004426.2: 7-8, 15 PHC1 602978 EDR1, HPH1, RAE28 PHEX 300550 HYP, HPDR, PEX, HPDR1, HYP1, XLH PHF21A 608325 BHC80, KIAA1696, BM-006 PHF6 300414 BFLS, BORJ, KIAA1823, MGC14797, CENP-31 PHF8 300560 ZNF422, KIAA1111, JHDM1F, KDM7B PHGDH 606879 SERA, PGDH, PDG NM_017934.6: 3 PHIP 612870 WDR11, ndrp, FLJ20705, DCAF14, BRWD2 PHKA1 311870 PHKA PHKA2 300798 PHK, PYK PHKB 172490 PHKG1 172470 PHKG PHKG2 172471 PHLDA1 605335 TDAG51, DT1P1B11, PHRIP PHOX2A 602753 ARIX, FEOM2, PMX2A, CFEOM2 PHOX2B 603851 PMX2B, Phox2b, NBPhox PHYH 602026 PAHX, RD, PHYH1 PHYKPL 614683 AGXT2L2, MGC15875 NM_058004.3: 33-36, 44-55 PI4KA 600286 PIK4CA, PI4K-ALPHA, pi4K230 PIBF1 607532 C13orf24, CEP90 PICALM 603025 CALM, CLTH PICK1 605926 PRKCABP, dJ1039K5, MGC15204 PIEZO1 611184 FAM38A, KIAA0233 NM_022068.3: 4 FAM38B2, C18orf30, C18orf58, FAM38B, PIEZO2 613629 FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907 PIF1 610953 C15orf20, FLJ22692 PIGA 311770 GPI3 PIGG 616918 FLJ20265, GPI7, LAS21 PIGL 605947 PIGM 610273 GPI-MT-I PIGN 606097 MCD4, PIG-N PIGO 614730 DKFZp434M222, FLJ00135 PIGQ 605754 hGPI1, GPI1 PIGT 610272

Page 83 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases PIGV 610274 FLJ20477 PIGW 610275 Gwt1, FLJ37433 PIGY 610662 MGC14156 CXorf41, MGC35261, NYSAR97, DNAAF6, PIH1D3 300933 TWISTER PIK3C2A 603601 PI3K-C2alpha PIK3C2B 602838 C2-PI3K, PI3K-C2beta PIK3C2G 609001 PIK3C3 602609 Vps34 NM_006218.3: 10-14 PIK3CA 171834 PI3K PIK3CB 602925 PIK3C1 PIK3CD 602839 p110D PIK3CG 601232 PIK3R1 171833 GRB1, p85-ALPHA, p85 NM_005027.3: 6 PIK3R2 603157 P85B, p85 PIK3R3 606076 p55 PIK3R4 602610 VPS15, p150 PIK3R5 611317 P101-PI3K, p101 PIK3R6 611462 C17orf38, FLJ34500, HsT41028, p87PIKAP PIP5K3, MGC40423, KIAA0981, PIKfyve, PIP5K, PIKFYVE 609414 p235, ZFYVE29, FAB1 PIN1 601052 dod PINK1 608309 PARK6, BRPK PIP5K1C 606102 PIP5Kgamma, KIAA0589, LCCS3 PITPNM3 608921 CORD5, NIR1, RDGBA3, ACKR6 PITRM1 MP1, KIAA1104, hMP1, PreP PITX1 602149 BFT, PTX1, POTX IRID2, IHG2, RIEG, RIEG1, RGS, IGDS, RS, Brx1, PITX2 601542 Otlx2, ARP1 PITX3 602669 ASMD PJVK 610219 DFNB59 NM_001009944.2: 1, 5, 7, 12, 22, PKD1 26 601313 PBP, Pc-1, TRPP1 NM_000296.3: 1, 5, 7, 12, 22, 26 PKD1L1 609721 PRO19563 PKD2 173910 PKD4, PC2, Pc-2, TRPP2 PKHD1 606702 TIGM1, ARPKD, FCYT, FPC PKLR 609712 PKM 179050 PKM2, THBP1, OIP3, PK3 PKP1 601975 B6P PKP2 602861 PLA2G2A 172411 PLA2B, PLA2L PLA2G4A 600522 PLA2G4, cPLA2-alpha

Page 84 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases PLA2G5 601192 PLA2G6 603604 iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2 PLA2G7 601690 PAFAH, LDL-PLA2 PLAG1 603026 ZNF912 PLAGL1 603044 ZAC, LOT1 PLAT 173370 PLAU 191840 URK, UPA PLB1 610179 PLB, FLJ30866 PLCB1 607120 KIAA0581, PLC-I, PLC154 PLCB4 600810 PLCD1 602142 PLCE1 608414 KIAA1516, PLCE, NPHS3 PLCG2 600220 PLCZ1 608075 NYD-SP27, PLCzeta PLD3 615698 HU-K4 PLEC 601282 EBS1, PLEC1, PCN, PLTN PLEKHG2 611893 CLG, FLJ00018, ARHGEF42 PLEKHG4 609526 SCA4, DKFZP434I216, ARHGEF44 PLEKHG5 611101 KIAA0720, Syx, GEF720, Tech NM_014798.2: 2, 7-8 PLEKHM1 611466 KIAA0356 PLEKHM2 609613 KIAA0842 NM_000301.3: 19 PLG 173350 PLIN1 170290 PLIN PLK4 605031 STK18, Sak PLN 172405 PLB, CMD1P PLOD1 153454 LLH, PLOD, LH1 PLOD2 601865 LH2 PLOD3 603066 LH3 PLP1 300401 SPG2, PLP, GPM6C PLPBP 604436 PROSC PLS3 300131 T-plastin PLVAP 607647 gp68, PV-1, PV1, FELS PLXND1 604282 KIAA0620 PML 102578 MYL, TRIM19, RNF71 PMM2 601785 CDG1, CDGS, CDG1a, PMI, PMI1 PMP2 170715 MP2, FABP8, M-FABP PMP22 601097 HNPP, GAS3, Sp110 PMPCA 613036 INPP5E, KIAA0123, Alpha-MPP PMS1 600258 PMSL1, MLH2 NM_001321051.1: 5

Page 85 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases NM_000535.6: 11-15 NM_001322014.1: 11-15 NM_001322015.1: 11-15 NM_001322011.1: 11-15 NM_001322004.1: 10-14 NM_001322005.1: 11-15 NM_001322007.1: 10-14 PMS2 600259 PMSL2, H_DJ0042M02.9, HNPCC4, MLH4 NM_001322008.1: 9-13 NM_001322006.1: 10-14 NM_001322012.1: 11-15 NM_001322010.1: 9-13 NM_001322009.1: 11-15 NM_001322003.1: 11-15 NM_001322013.1: 10-14 PMVK 607622 PMK, PMKA, HUMPMKI DYT8, PDC, DKFZp564N1362, FPD1, MR-1, PNKD 609023 BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1, MR-1S PNKP 605610 PNK PNLIP 246600 PL PNMT 171190 PENT PNP 164050 NP, PUNP PNPLA1 612121 FLJ38755, dJ50J22.1 PNPLA2 609059 desnutrin, TTS-2.2, ATGL, FP17548, iPLA2zeta C22orf20, ADPN, dJ796I17.1, FLJ22012, PNPLA3 609567 adiponutrin, iPLA2epsilon PNPLA4 300102 DXS1283E, GS2, iPLA2eta PNPLA6 603197 NTE, sws, iPLA2delta, SPG39 PNPLA8 612123 IPLA2G, IPLA2-2, iPLA2gamma PNPO 603287 PDXPO PNPT1 610316 DFNB70, PNPase, OLD35, old-35 POC1A 614783 WDR51A, DKFZP434C245 POC1B 614784 WDR51B, TUWD12, FLJ14923 C5orf37, FLJ35779, MGC120442, MGC120443, POC5 617880 MGC120444, hPOC5 PODXL 602632 PCLP, Gp200, PC POF1B 300603 POF, FLJ22792 POFUT1 607491 O-FUT, O-Fuc-T, KIAA0180, FUT12 C3orf9, KTELC1, MDS010, MGC32995, POGLUT1 615618 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi POGZ 614787 KIAA0461, ZNF635m, ZNF280E POLA1 312040 POLA, NSX, p180 POLD1 174761 POLD, CDC2 POLD3 611415 P66, KIAA0039, P68, PPP1R128

Page 86 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases POLE 174762 POLE1 POLE2 602670 DPE2 POLG 174763 POLG1, POLGA POLG2 604983 MTPOLB, HP55 POLH 603968 RAD30A, XP-V POLK 605650 DINB1, POLQ, DINP POLR1A 616404 DKFZP586M0122, FLJ21915, RPO1-4, RPA1 POLR1C 610060 RPA40, RPA39, RPA5, RPAC1 POLR1D 613715 RPAC2, RPA16, RPO1-3, RPA9, MGC9850 POLR3A 614258 RPC1, RPC155, hRPC155 POLR3B 614366 RPC2, FLJ10388 POMC 176830 MSH, POC, CLIP, ACTH, NPP, LPH POMGNT1 606822 MEB, FLJ20277, MGAT1.2, LGMD2O POMGNT2 614828 C3orf39, GTDC2, FLJ14566, AGO61 POMK 615247 FLJ23356, SgK196 POMP 613386 C13orf12, HSPC014, UMP1 POMT1 607423 LGMD2K POMT2 607439 LGMD2N PON1 168820 PON, ESA PON2 602447 PON3 602720 POP1 602486 POR 124015 CYPOR, FLJ26468 PORCN 300651 DHOF, MG61, PORC, PPN, por POT1 606478 hPot1, DKFZp586D211 POU1F1 173110 PIT1, GHF-1, POU1F1a, PIT-1 POU3F4 300039 DFN3, BRN4, OTF9, DFNX2 POU4F3 602460 DFNA15, DFNA52, DFNA42, BRN3C POU5F1 164177 OTF3, OCT3, Oct4, MGC22487 PPA2 609988 FLJ20459 PPARA 170998 PPAR, hPPAR, NR1C1 PPARG 601487 PPARG1, PPARG2, NR1C3, PPARgamma PPARGC1B 608886 PERC, PGC1B PPIB 123841 CYPB, OI9, PPIase, B, CYP-S1, SCYLP PPM1B 603770 PPC2BETAX, PP2CB, PP2CBETA PPM1D 605100 Wip1, PP2C-DELTA DKFZp761G058, PP2Ckappa, hPTMP, PP2Cm, PPM1K 611065 BDP PPOX 600923 VP, PPO PPP1CB 600590 PP1B, PP-1B, PP1beta PPP1R12B 603768 MYPT2, MGC87886, MGC131980, PP1bp55 PPP1R15B 613257 FLJ14744 PPP1R17 604088 C7orf16, GSBS PPP1R3A 600917 PPP1R3, GM PPP1R3C 602999 PPP1R5, PTG PPP2R1A 605983 PR65A, PP2A-Aalpha, PP2AA

Page 87 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases PPP2R1B 603113 PR65B, PP2A-Abeta PPP2R2B 604325 SCA12, PR55-BETA, PR52B, B55beta NM_181677.2: 3 PPP2R5B 601644 FLJ35411, B56B, PR61B, B56beta PPP2R5C 601645 B56G, PR61G, B56gamma PPP2R5D 601646 B56D, B56delta PPT1 600722 PPT, CLN1, INCL PPT2 603298 PQBP1 300463 RENS1, MRXS8, SHS, MRX55, MRX2, MRXS3 PRCC 179755 RCCP1 PRCD 610598 RP36 PRDM1 603423 BLIMP1, PRDI-BF1 NM_021619.2: 5 PRDM12 616458 PFM9 PRDM13 616741 PFM10 PRDM16 605557 MEL1, PFM13, KIAA1675, MGC166915, KMT8F PRDM5 614161 PFM2 PRDM6 616982 PRISM, KMT8C PRDM8 616639 KMT8D NM_020227.3: 11 PRDM9 609760 MSBP3, PFM6, ZNF899, KMT8B NM_001310214.1: 11 PREPL 609557 KIAA0436 PRF1 170280 PFP, P1, HPLH2 CACP, JCAP, SZP, MSF, HAPO, bG174L6.2, PRG4 604283 FLJ32635 PRICKLE1 608500 FLJ31937, EPM1B, RILP PRICKLE2 608501 DKFZp686D143 PRICKLE3 300111 LMO6 PRIMA1 613851 PRIMA PRIMPOL 615421 CCDC111, FLJ33167 PRKAA1 602739 AMPKa1 PRKAA2 600497 PRKAA, AMPK, AMPKa2 PRKAB1 602740 PRKAB2 602741 PRKACA 601639 PKACa PRKACG 176893 PKACg PRKAG1 602742 PRKAG2 602743 AAKG, AAKG2, H91620p, WPWS, CMH6 PRKAG3 604976 PRKAR1A 188830 PRKAR1, TSE1, CNC1 PRKAR1B 176911 PRKCA 176960 PKCA, PKCα PRKCB 176970 PRKCB2, PKCB, PRKCB1, PKCβ PRKCD 176977

Page 88 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases PRKCG 176980 PKCG, SCA14, PKCC, MGC57564, PKCγ PRKCQ 600448 PRKCSH 177060 G19P1, PCLD, PLD1, VASAP-60, GIIB PRKD1 605435 PRKCM, PKCM, PKD, PKC-mu HYRC, HYRC1, DNPK1, p350, DNAPK, XRCC7, PRKDC 600899 DNA-PKcs, DNAPKc, DNA-PKC, p460 PRKG1 176894 PRKGR1B, PRKG1B, PGK, PKG, PKG1 PRKN 602544 PARK2, PDJ, AR-JP, parkin PRKRA 603424 PACT, RAX, HSD14, DYT16 PRLR 176761 PRM2 182890 CT94.2 PRMT7 610087 FLJ10640, KIAA1933 PRMT9 616125 PRMT10, FLJ46629 PRND 604263 DPL, dJ1068H6.4, DOPPEL, PrPLP PRNP 176640 PRIP, GSS, CJD, CD230, PRP, AltPrP PROC 612283 PROCR 600646 EPCR, CCD41, CD201 PRODH 606810 HSPOX2, PRODH1, PIG6, PRODH2, TP53I6 PRODH2 616377 HSPOX1 PROK2 607002 PK2, BV8, MIT1, KAL4 GPR73L1, KAL3, GPR73b, PKR2, GPRg2, PROKR2 607123 dJ680N4.3 PROML1, MCDR2, STGD4, AC133, CD133, RP41, PROM1 604365 CORD12 PROP1 601538 PROS1 176880 PROS PROZ 176895 PZ PRPF3 607301 RP18, Prp3, hPrp3, SNRNP90 PRPF31 606419 RP11, NY-BR-99, PRP31, hPrp31, SNRNP61 PRPF4 607795 Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60 C20orf14, TOM, bB152O15.1, ANT-1, U5-102K, PRPF6 613979 Prp6, hPrp6, SNRNP102, RP60 PRPF8 607300 RP13, PRPC8, Prp8, hPrp8, SNRNP220 PRPH 170710 NEF4, PRPH1 PRPH2 179605 RP7, RDS, TSPAN22, rd2, CACD2 PRPS1 311850 DFN2, CMTX5, DFNX1 ICCA, DYT10, FLJ25513, DKFZp547J199, PRRT2 614386 IFITMD1, FICCA, DSPB3, PKC, EKD1 PRRX1 167420 PMX1, PHOX1 PRSS1 276000 TRY1 PRSS12 606709 BSSP-3, MRT1 PRSS56 613858 PRUNE1 617413 PRUNE, DRES-17, HTCD37, H-PRUNE PRX 605725 KIAA1620 PSAP 176801 SAP1, GLBA

Page 89 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases PSAT1 610936 PSA PSEN1 104311 AD3, FAD, S182, PS1 PSEN2 600759 AD4, AD3L, STM2, PS2 PSENEN 607632 PEN2 PSMA3 176843 HC8 PSMB4 602177 HN3, PROS26 PSMB8 177046 LMP7, RING10, D6S216E, PSMB5i, beta5i PSMB9 177045 LMP2, RING12, beta1i, PSMB6i PSMC3IP 608665 TBPIP, GT198, HUMGT198A, Hop2 PSMD1 617842 S1, P112, Rpn2 PSPH 172480 PSP PSPN 602921 PSP PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PSTPIP1 606347 PAPAS PTCH1 601309 NBCCS, PTCH, BCNS PTCH2 603673 PTCHD1 300828 FLJ30296 PTDSS1 612792 KIAA0024, PSSA, PSS1 NM_000314.6: 9 PTEN NM_001304717.2: 10 601728 BZS, MHAM, MMAC1, TEP1, PTEN1 NM_001304718.1: 9 PTF1A 607194 PTF1-p48, bHLHa29, p48 PTGFR 600563 FP PTGIS 601699 PGIS, CYP8A1 PTGS1 176805 COX1, PGHS-1, PTGHS PTGS2 600262 COX2 PTH 168450 PTH1 PTH1R 168468 PTHR, PTHR1 PTHLH 168470 PTHRP, HHM, PLP, PTHR PTPN11 176876 NS1, BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2 PTPN12 600079 PTPG1, PTP-PEST PTPN13 600267 PTP1E, PTP-BAS, PTPL1, PTP-BL PTPN14 603155 PEZ PTPN21 603271 PTPD1, PTPRL10 PTPN22 600716 PTPN8, Lyp, Lyp1, Lyp2 PTPN23 606584 DKFZP564F0923, KIAA1471, HD-PTP PTPRC 151460 CD45, LCA, T200, GP180 PTPRD 601598 PTPD, HPTP PTPRF 179590 LAR PTPRJ 600925 DEP1, HPTPeta, CD148 PTPRO 600579 PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6 PTPRQ 603317 DFNB84 PTPRT 608712 RPTPrho, KIAA0283 PTRH2 608625 BIT1, CGI-147, PTH2, CFAP37 PTS 612719 PTPS PTX3 602492 TNFAIP5, TSG-14

Page 90 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases PUF60 604819 FIR, SIAHBP1, RoBPI PURA 600473 PURALPHA, PUR1, PUR-ALPHA PUS1 608109 PUS3 616283 FKSG32 KIAA0230, PRG2, MG50, D2S448, D2S448E, PXDN 605158 PXN PXDNL 615904 FLJ25471, PMR1 PYCR1 179035 P5C PYCR2 616406 P5CR2 PYGL 613741 PYGM 608455 PYGO2 606903 NM_024854.3: 12 PYROXD1 617220 DKFZp762G094, FLJ22028 PYY 600781 PYY1 QARS 603727 QDPR 612676 DHPR, PKU2, SDR33C1 GatA, FLJ10989, FLJ12189, DKFZP564C1278, QRSL1 617209 FLJ13447 RAB10 612672 RAB18 602207 RAB23 606144 RAB27A 603868 RAB27, RAM, GS2, HsT18676 RAB28 612994 RAB33B 605950 DKFZP434G099 RAB39B 300774 MRX72, WSN RAB3A 179490 RAB3GAP1 602536 RAB3GAP, KIAA0066, RAB3GAP130, WARBM1 RAB3-GAP150, KIAA0839, DKFZP434D245, RAB3GAP2 609275 SPG69 RAB40AL 300405 RAR2, RLGP RAB7A 602298 RAB7 RAC1 602048 TC-25, p21-Rac1, Rac-1 RAC2 602049 EN-7 RAD18 605256 RNF73 RAD21 606462 KIAA0078, hHR21, SCC1 RAD50 604040 hRad50, RAD50-2 RAD51A, RECA, HsRad51, HsT16930, BRCC5, RAD51 NM_001164269.1: 4 179617 FANCR NM_133487.3: 4 RAD51B 602948 RAD51L1, REC2, hREC2, R51H2 RAD51C 602774 RAD51L2, FANCO RAD51D 602954 RAD51L3, R51H3, Trad, HsTRAD RAD54B 604289 RDH54 RAD54L 603615 hHR54, hRAD54, RAD54A

Page 91 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases RAF1 164760 Raf-1, c-Raf, CRAF RAG1 179615 RNF74, MGC43321 RAG2 179616 SMCR, DKFZP434A139, SMS, KIAA1820, RAI1 607642 MGC12824 RALGDS 601619 RGF, RalGEF, RGDS NM_006267.4: 8, 11, 13 RANBP2 601181 ANE1, NUP358, ADANE RANGAP1 602362 SD, Fug1, KIAA1835 RANGRF 607954 MOG1, HSPC165, HSPC236, RANGNRF RAP1A 179520 KREV-1, SMGP21 RAP1B 179530 K-REV, RAL1B, DKFZp586H0723 RAP1GDS1 179502 SmgGDS PDZGEF1, PDZ-GEF1, RA-GEF, DKFZP586O1422, RAPGEF2 609530 KIAA0313 RAPSN 601592 RNF205, CMS1D, CMS1E RARA 180240 RAR, NR1B1 RARB 180220 HAP, NR1B2, RRB2 RARRES1 605090 TIG1, LXNL RARS 107820 DALRD1 RARSL, MGC14993, MGC23778, PRO1992, RARS2 611524 dJ382I10.6, DALRD2 RASA, GAP, CM-AVM, p120GAP, p120RASGAP, RASA1 139150 p120 RASA2 601589 GAP1M RASA3 605182 GAP1IP4BP, GAPIII RASAL1 604118 RASAL RASAL2 606136 nGAP RASAL3 616561 FLJ21438 RASGEF1A 614531 CG4853, FLJ37817 RASGEF1B 614532 GPIG4, FLJ31695 GRF1, CDC25L, CDC25, GRF55, H-GRF55, GNRP, RASGRF1 606600 PP13187 RASGRF2 606614 GRF2, Ras-GRF2 RASGRP1 603962 CalDAG-GEFII, RASGRP RASGRP2 605577 CALDAG-GEFI RASGRP3 609531 KIAA0846, GRP3, CalDAG-GEFIII RASGRP4 607320 RAX 601881 RX RAX2 610362 RAXL1, MGC15631, ARMD6, CORD11 RB1 614041 OSRC, RB, PPP1R130 KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, RB1CC1 606837 PPP1R131 RBBP6 600938 P2P-R, PACT, SNAMA RBBP8 604124 SCKL2, CtIP, RIM, COM1

Page 92 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases C20orf18, RBCK2, XAP4, RNF54, ZRANB4, RBCK1 610924 UBCE7IP3, HOIL1 RBFOX1 605104 A2BP1, FOX-1, HRNBP1 RBFOX2 612149 RBM9, HNRBP2, FOX-2, HRNBP2 RBFOX3 616999 FOX-3, NeuN, HRNBP3 RBL1 116957 p107, cp107, PRB1 DXS8237E, KIAA0122, GPATC9, ZRANB5, RBM10 300080 GPATCH9, S1-1 RBM20 613171 RBM28 612074 FLJ10377 RBM7 612413 RBMX 300199 RNMX, hnRNP-G, HNRNPG RBP1 180260 CRABP-I, CRBP1, CRBP, RBPC, CRBPI RBP3 180290 D10S64, D10S65, D10S66, RP66 RBP4 180250 IGKJRB1, RBPSUH, SUH, IGKJRB, RBPJK, KBF2, RBPJ 147183 RBP-J, CBF1 RBSN 609511 ZFYVE20 RCBTB1 607867 FLJ10716, CLLD7, CLLL7 RCOR1 607675 RCOR, COREST, KIAA0071 RD3 180040 C1orf36, LCA12 RDH11 607849 MDT1, SDR7C1, ARSDR1 RDH12 608830 FLJ30273, SDR7C2, LCA13, RP53 RDH5 601617 RDH1, HSD17B9, SDR9C5 RDX 179410 DFNB24 NM_002907.3: 14-15 RECQL 600537 RecQ1, RecQL1 NM_032941.2: 15-16 RECQL4 603780 RecQ4 RECQL5 603781 RecQ5, FLJ90603 REEP1 609139 C2orf23, FLJ13110, SPG31, Yip2a REEP2 609347 C5orf19, SGC32445, SPG72, Yip2d REL 164910 I-Rel, c-Rel RELA 164014 NFKB3, p65 RELN 600514 RL, PRO1598 REN 179820 REPS1 614825 RERE 605226 ATN1L, KIAA0458, ARP, ARG, DNB1 REST 600571 DFNA27, NRSF, XBR HSCR1, MEN2A, MTC1, MEN2B, PTC, CDHF12, RET 164761 RET51, CDHR16 RETREG1 613114 FAM134B, FLJ20152, JK1 REV3L 602776 POLZ, REV3 RFC1 102579 A1, PO-GA, RFC140, MHCBFB RFT1 611908 CDG1N RFX5 601863 RFX6 612659 RFXDC1, MGC33442, dJ955L16.1

Page 93 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases

RFXANK 603200 BLS, RFX-B, ANKRA1, F14150_1, MGC138628 RFXAP 601861 RGR 600342 RP44 RGS2 600861 G0S8 RGS4 602516 SCZD9 RGS6 603894 RGS7 602517 RGS9 604067 PERRS, RGS9L, MGC26458, MGC111763 RGS9BP 607814 FLJ45744, PERRS, R9AP, RGS9 RHAG 180297 RH50A, CD241, SLC42A1 RHBDL6, TOC, FLJ22341, RHBDL5, TOCG, RHBDF2 614404 iRhom2 RHEB 601293 RHEB2 RHNO1 614085 C12orf32, HKMT1188, MGC13204, RHINO RHO 180380 RP4, OPN2, CSNBAD1 RHOH 602037 ARHH, RhoH, TTF RIC3 610509 FLJ11608, PRO1385, AYST720 RICTOR 609022 MGC39830, AVO3, PIA, KIAA1999 RILP 607848 FLJ31193 RIMS1 606629 RAB3IP2, CORD7, RIM, KIAA0340, RIM1 RIN2 610222 RASSF4 RINT1 610089 FLJ11785, RINT-1 RIPK4 605706 ANKRD3, DIK, ANKK2, RIP4, PKK RIPOR2 611410 C6orf32, FAM65B, KIAA0386, DIFF48, MYONAP RIPPLY1 300575 RIPPLY2 609891 C6orf159, dJ237I15.1 RIT1 609591 RIT, RIBB, ROC1, MGC125864, MGC125865 RIT2 609592 RIN, RIBA RLBP1 180090 CRALBP RLIM 300379 RNF12, NY-REN-43, MGC15161 RMND1 614917 C6orf96, bA351K16.3, FLJ20627, RMD1 RMRP 157660 CHH, RMRPR, RRP2, NME1 RNASEH1 604123 RNASEH2A 606034 RNASEHI, RNHIA, RNHL, AGS4 RNASEH2B 610326 DLEU8, AGS2, FLJ11712 RNASEH2C 610330 AYP1, AGS3 RNASEL 180435 RNS4, PRCA1 RNASET2 612944 RNASE6PL, FLJ10907, bA514O12.3 RNF113A 300951 ZNF183, RNF113, Cwc24 RNF125 610432 FLJ20456 RNF135 611358 MGC13061 RNF139 603046 TRC8, RCA1, HRCA1 RNF168 612688 FLJ35794 RNF170 614649 SNAX1, DKFZP564A022, ADSA

Page 94 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases RNF186 617163 FLJ20225 RNF19A 607119 RNF19, dorfin, DKFZp566B1346 FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, RNF20 607699 BRE1 RNF212 612041 LOC285498, FLJ38841 C17orf27, KIAA1618, MYMY2, KIAA1554, RNF213 613768 NET57, ALO17 RNF216 609948 TRIAD3, UBCE7IP1, ZIN RNF31 612487 ZIBRA, FLJ10111, FLJ23501, HOIP, Paul RNF43 612482 FLJ20315, DKFZp781H0392, URCC RNF6 604242 DKFZp686P0776 RNLS 609360 C10orf59, FLJ11218, renalase RNPC3 618016 KIAA1839, FLJ20008, RBM40, SNRNP65 RNU4ATAC 601428 RNU4ATAC1, U4atac ROBO1 602430 DUTT1, FLJ21882, SAX3 ROBO2 602431 KIAA1568 ROBO3 608630 HGPPS, RBIG1, FLJ21044, HGPS ROGDI 614574 FLJ22386 ROM1 180721 TSPAN23, ROM ROR2 602337 NTRKR2, BDB, BDB1 RORB 601972 RZRB, NR1F2, ROR-BETA RORC 602943 RZRG, RORG, NR1F3, TOR RP1 603937 DCDC4A, ORP1 RP1L1 608581 DCDC4B RP2 300757 TBCCD2, NME10, NM23-H10 NM_203288.1: 6 RP9 607331 PAP-1 RPE65 180069 RP20, LCA2, rd12, BCO3 RPGR 312610 CRD, RP3, RP15, COD1, CORDX1 RPGRIP1 605446 RPGRIP, RGI1, LCA6, CORD13 KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, RPGRIP1L 610937 PPP1R134 RPIA 180430 RPL10 312173 NOV, QM, DXS648E, DXS648, FLJ23544, L10 RPL11 604175 L11, uL5 RPL15 604174 RPL10, RPLY10, RPYL10, EC45, L15 RPL19 180466 FLJ27452, MGC71997, DKFZp779D216, L19 L21, FLJ27458, MGC71252, MGC104274, RPL21 603636 MGC104275, DKFZp686C06101 RPL23 603662 rpL17, L23 RPL26 603704 L26 RPL27 607526 L27 RPL31 617415 L31 RPL35A 180468 L35A, eL33, GIG33 RPL36 617893 DKFZp566B023, L36 RPL5 603634 L5, PPP1R135, uL18

Page 95 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases NM_002951.4: 1 NM_001324299.1: 1 NM_001324305.1: 1 NM_001135771.2: 1 RPN2 180490 SWP1, RPNII, RIBIIR, RPN-II NM_001324302.1: 1 NM_001324301.1: 1 NM_001324304.1: 1 NM_001324303.1: 1 RPS10 603632 MGC88819, S10 RPS14 130620 EMTB, S14 RPS15 180535 RIG, MGC111130, S15 RPS19 603474 DBA, S19, eS19 RPS20 603682 S20, uS10 RPS24 602412 S24, eS24 RPS26 603701 S26, eS26 RPS27 603702 MPS-1, MPS1, S27 RPS27A 191343 UBCEP80, Uba80, S27A RPS28 603685 S28, eS28 RPS29 603633 S29, uS14 RPS6KA1 601684 RSK1, HU-1, p90Rsk RPS6KA2 601685 RSK3, HU-2 RPS6KA3 300075 MRX19, CLS, RSK2, HU-3 RPS7 603658 S7, eS7 RPSA 150370 LAMR1, LRP, 37LRP, p40, SA RPTOR 607130 KOG1, Mip1, KIAA1303, raptor RPUSD3 617759 MGC29784 RRAGA 612194 RAGA, FIP-1 RRAGC 608267 GTR2, FLJ13311 RRAS 165090 R-Ras NM_001102669.2: 6 NM_012250.5: 6 RRAS2 600098 TC21 NM_001177315.1: 6 NM_001177314.1: 6 RREB1 602209 HNT RRM1 180410 RRM2B 604712 p53R2 RRP8 615818 KIAA0409, NML RS1 300839 RS, XLRS1 RSPH1 609314 TSGA2, FLJ32753, RSP44, RSPH10A, CILD24 RSPH3 615876 RSHL2, dJ111C20.1, RSP3 RSPH4A 612647 RSHL3, dJ412I7.1, FLJ37974, RSPH6B, CILD11 RSPH9 612648 MRPS18AL1, C6orf206, FLJ30845, CILD12 RSPO1 609595 FLJ40906, RSPONDIN RSPO4 610573 C20orf182, dJ824F16.3 RSPRY1 616585 KIAA1972

Page 96 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases C20orf41, bK3184A7.3, NHL, DKFZP434C013, RTEL1 608833 KIAA1088, RTEL RTN2 603183 SPG12, NSP2, NSPL1 RTN4IP1 610502 NIMP RTTN 610436 DKFZP434G145 RUBCN 613516 KIAA0226, rubicon, rundataxin RUNDC1 DKFZp761H0421 RUNX1 151385 AML1, CBFA2, PEBP2A2, AMLCR1 RUNX2 600211 CCD, CBFA1, CCD1, AML3, PEBP2A1, PEBP2aA1 RUSC2 611053 KIAA0375 RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, RUVBL2 604788 INO80J, Rvb2 RXYLT1 605862 TMEM5, HP10481 RYR1 180901 MHS, MHS1, CCO, RYR, PPP1R137 RYR2 180902 ARVD2, ARVC2, VTSIP S100A8 123885 CAGA, CFAG, P8, MRP8, 60B8AG, CGLA S1PR2 605111 EDG5, DFNB68, Gpcr13, H218, AGR16 S1PR3 601965 EDG3, EDG-3 NM_000331.5: 3 SAA1 NM_199161.4: 3 104750 SAA, PIG4, TP53I4 NM_001178006.2: 4 SAA4 104752 C-SAA, CSAA ARSACS, KIAA0730, DKFZp686B15167, SACS 604490 DNAJC29, SPAX6, PPP1R138 SAG 181031 ARRESTIN, RP47 SALL1 602218 TBS, Hsal1, ZNF794 SALL2 602219 KIAA0360, Hsal2, ZNF795 SALL4 607343 dJ1112F19.1, ZNF797 SAMD11 616765 MGC45873 SAMD9 610456 C7orf5, KIAA2004, FLJ20073 SAMD9L 611170 C7orf6, KIAA2005, FLJ39885 SAMHD1 606754 SBBI88, Mg11, HDDC1, MOP-5, AGS5 SAR1B 607690 SARA2 SARDH 604455 DMGDHL1, SDH SARSM, FLJ20450, mtSerRS, SerRSmt, SARS, SARS2 612804 SERS, SYS SART3 611684 KIAA0156, RP11-13G14, TIP110, p110 SASH1 607955 KIAA0790, dJ323M4.1, SH3D6A SASS6 609321 DKFZp761A078, SAS-6, FLJ22097, SAS6 SATB2 608148 KIAA1034, FLJ21474 SBDS 607444 CGI-97, FLJ10917, SDS, SWDS SBF1 603560 MTMR5, DENND7A SBF2 607697 CMT4B2, KIAA1766, MTMR13, DENND7B SC5D 602286 SC5DL SCARB1 601040 CD36L1, SRB1, CLA-1, CLA1, SR-BI

Page 97 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases SCARB2 602257 CD36L2, HLGP85, LIMPII, SR-BII, LIMP-2 SCARF2 613619 SREC-II, SREC2, HUMZD58C02 SCG5 173120 SGNE1, 7B2, SgV SCLT1 611399 hCAP-1A, FLJ30655 SCN10A 604427 Nav1.8, hPN3, SNS, PN3 SCN11A 604385 SCN12A, Nav1.9, NaN, SNS-2 SCN1, FEB3, Nav1.1, GEFSP2, HBSCI, NAC1, SCN1A 182389 SMEI SCN1B 600235 SCN2A 182390 SCN2A1, SCN2A2, Nav1.2, HBSCII, HBSCI SCN2B 601327 SCN3A 182391 Nav1.3 SCN3B 608214 HSA243396 SCN4A 603967 HYKPP, Nav1.4, HYPP, SkM1 SCN4B 608256 LQT10 CMD1E, Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, SCN5A 600163 HB2, HH1, SSS1, CDCD2, CMPD2, ICCD SCN7A 182392 SCN6A, Nav2.1, Nav2.2, NaG SCN8A 600702 MED, Nav1.6, NaCh6, PN4, CerIII, CIAT SCN9A 603415 Nav1.7, PN1, NE-NA, NENA, ETHA SCNM1 608095 MGC3180 SCNN1A 600228 SCNN1, ENaCalpha SCNN1B 600760 ENaCbeta SCNN1G 600761 ENaCgamma, SCNEG SCO1 603644 SCOD1 SCO2 604272 MYP6, SCO1L

SCP2 NM_001007098.2: 11 184755 NM_001330587.1: 12 SCRIB 607733 KIAA0147, SCRB1, Vartul NTKL, HT019, P105, GKLP, NKTL, TAPK, TRAP, SCYL1 607982 TEIF, MGC78454 NM_014654.3: 1 SDC3 186357 N-syndecan, SYND3 SDCCAG8 613524 NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16 SDHA 600857 SDH2, FP, SDHF SDHAF1 612848 LYRM8 SDHAF2 613019 PGL2, C11orf79, FLJ20487, SDH5 SDHB 185470 SDH1, SDH SDHC 602413 PGL3, CYB560, cybL SDHD 602690 PGL, PGL1, cybS NM_001276506.1: 4 SDR9C7 609769 SDR-O, RDHS SEC13 600152 D3S1231E, SEC13L1, SEC13R, npp-20 SEC23A 610511 SEC23B 610512 CDAN2, CDA-II, CDAII, HEMPAS

Page 98 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases SEC24B 607184 SEC24D 607186 KIAA0755 SEC61A1 609213 SEC63 608648 SEC63L, PRO2507, ERdj2, DNAJC23 SECISBP2 607693 SBP2 NM_020451.2: 1 SELENON 606210 RSMD1, MDRS1, SEPN1, SELN, RSS NM_206926.1: 1 SELP 173610 GRMP, CD62, PSEL, PADGEM, GMP140, CD62P SHFD1, SHFM1, C7orf76, DSS1, Shfdg1, ECD, SEM1 601285 SHSF1, FLJ42280 SEMA3A 603961 SEMAD, SEMA1, SemD, coll-1, Hsema-I SEMA3C 602645 SEMAE, SemE SEMA3D 609907 coll-2, Sema-Z2 SEMA3E 608166 SEMAH, M-SemaK, KIAA0331, coll-5 SEMA3F 601124 SEMAK, Sema4 SEMA4A 607292 SEMAB, SemB, FLJ12287, CORD10 SEMA5A 609297 SEMAF, semF SEMA7A 607961 SEMAL, H-Sema-L, CD108 SEPSECS 613009 SLA/LP, SLA SEPT12 611562 FLJ25410 MSF, MSF1, KIAA0991, PNUTL4, AF17q25, SEPT9 604061 SeptD1 SERAC1 614725 FLJ14917 PI, AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, SERPINA1 107400 alpha1AT SERPINA3 107280 AACT, ACT SERPINA6 122500 CBG SERPINA7 314200 TBG SERPINB4 600518 SCCA2, PI11, LEUPIN, SCCA-2, SCCA1 SERPINB6 173321 PI6, DFNB91, PTI, CAP SERPINB7 603357 MEGSIN SERPINB8 601697 PI8, CAP2 SERPINC1 107300 AT3, ATIII, MGC22579 SERPIND1 142360 HCF2, HC-II, HLS2, HC2, D22S673 SERPINE1 173360 PLANH1, PAI1, PAI SERPINF1 172860 PEDF, EPC-1, PIG35 SERPINF2 613168 PLI, API, ALPHA-2-PI, A2AP, AAP SERPING1 606860 C1NH, C1IN, C1-INH, HAE1, HAE2, C1INH SERPINH1 600943 CBP1, CBP2, SERPINH2, HSP47, colligen SERPINI1 602445 PI12 SETBP1 611060 SEB, KIAA0437 SETD1A 611052 KIAA0339, Set1, KMT2F SETD2 612778 HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A SETD5 615743 FLJ10707 SETX 608465 ALS4, SCAR1, KIAA0625, AOA2, Sen1

Page 99 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases SF3B1 605590 SAP155, SF3b155, PRPF10, Prp10, Hsh155 SF3B4 605593 SAP49, SF3b49, Hsh49 SFRP4 606570 frpHE, FRP-4, FRPHE, FRZB-2 NM_005411.4: 6 NM_001164644.1: 6 NM_001164647.1: 5 SFTPA1 178630 SFTP1, SP-A, SP-A1, COLEC4 NM_001164646.1: 6 NM_001093770.2: 6 NM_001164645.1: 6 NM_001098668.3: 6 SFTPA2 NM_001320813.1: 6 178642 SP-A2, COLEC5 NM_001320814.1: 5 SFTPB 178640 SFTP3, SP-B SFTPC 178620 SFTP2, SP-C, PSP-C, SMDP2, BRICD6 SFXN4 615564 SLC56A4 SGCA 600119 ADL, SCARMD1, LGMD2D, adhalin, DMDA2, A2 SGCB 600900 LGMD2E, SGC, A3b SGCD 601411 DAGD, LGMD2F, CMD1L SGCE 604149 DYT11 NM_001099401.1: 10 DMDA1, MAM, LGMD2C, SCARMD2, DAGA4, SGCG 608896 SCG3, DMDA, TYPE, A4, MGC130048 SGO1 609168 SGOL1, NY-BR-85 SGPL1 603729 SPL SGSH 605270 HSS, MPS3A, SFMD RUTBC3, DJ1042K10.2, RUSC3, RabGAP-5, SGSM3 610440 RABGAP5 SH2B1 608937 FLJ30542, SH2B SH2B3 605093 LNK, IDDM20 SH2D1A 300490 IMD5, LYP, XLP, MTCP1, DSHP, XLPD, EBVS, SAP

SH3BP2 602104 RES4-23, CRBM NM_001145856.1: 1 SH3GL1 601768 SH3P8, SH3D2B, CNSA1, EEN, MGC111371 SH3PXD2B 613293 KIAA1295, FLJ20831 SH3TC2 608206 KIAA1985, CMT4C SHANK1 604999 SSTRIP, SPANK-1, synamon SHANK2 603290 CORTBP1, CTTNBP1, ProSAP1, SHANK, SPANK-3 SHANK3 606230 SPANK-2, prosap2, KIAA1650, PSAP2 SHBG 182205 ABP, TEBG, MGC126834, MGC138391 SHC1 600560 SHC, p66, ShcA SHC3 605263 N-Shc, NSHC, SHCC

Page 100 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases HPE3, HLP3, HHG1, SMMCI, TPT, TPTPS, SHH 600725 MCOPCB5 SHMT1 182144 CSHMT, SHMT, MGC15229, MGC24556 SHOC2 602775 KIAA0862, SOC2, SUR-8, SOC-2, SUR8 312865 SHOX PHOG, GCFX, SS, SHOXY NM_006883.2: 2-6 400020 SHOX2 602504 SHOT, OG12X, OG12 SHPK 605060 CARKL, SHK SHROOM3 604570 ShrmL, SHRM, KIAA1481, APXL3 SHROOM4 300579 KIAA1202 SI 609845 SIAE 610079 YSG2, CSE-C, MGC87009, LSE SIGIRR 605478 TIR8, IL-1R8 SN, SIGLEC-1, CD169, FLJ00051, FLJ00055, SIGLEC1 600751 FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin SIGMAR1 601978 OPRS1, SR-BP1 SIK1 605705 SNF1LK, msk SIL1 608005 MSS, BAP, ULG5 SIM1 603128 bHLHe14 SIN3A 607776 KIAA0700, DKFZP434K2235 SIPA1L1 617504 KIAA0440, E6TP1 SIPA1L3 616655 KIAA0545 SIRT1 604479 SIR2L1 SIRT3 604481 SIR2L3 SIX1 601205 DFNA23 SIX2 604994 SIX3 603714 HPE2 SIX5 600963 DMAHP SIX6 606326 OPTX2, Six9 SKI 164780 SKIV2L 600478 SKIV2, HLP, DDX13, SKI2W, 170A, SKIV2L1 SLBP 602422 HBP SLC10A1 182396 NTCP SLC10A2 601295 ASBT, ISBT SLC11A2 600523 NRAMP2, DCT1, DMT1 SLC12A1 600839 NKCC2 SLC12A2 600840 NKCC1, BSC, BSC2, PPP1R141 SLC12A3 600968 NCCT SLC12A5 606726 KIAA1176, KCC2 SLC12A6 604878 KCC3, ACCPN SLC13A5 608305 NACT, INDY SLC14A1 613868 JK, HsT1341, RACH1, RACH2 SLC16A1 600682 MCT, MCT1 SLC16A12 611910 MCT12 SLC16A2 300095 DXS128, AHDS, MRX22, XPCT, MCT8, MCT7

Page 101 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases SLC17A3 611034 NPT4 SLC17A5 604322 SIASD, AST, SD, ISSD, NSD, SIALIN, SLD SLC17A8 607557 DFNA25, VGLUT3 SLC17A9 612107 C20orf59, FLJ23412, VNUT SLC18A2 193001 VMAT2, SVMT, SVAT SLC18A3 600336 VACHT SLC19A1 600424 FOLT, RFC1 SLC19A2 603941 TRMA, THTR1 SLC19A3 606152 THTR2 SLC1A1 133550 EAAC1, EAAT3 SLC1A2 600300 GLT-1, EAAT2 SLC1A3 600111 EAAT1, GLAST, EA6 SLC1A4 600229 SATT, ASCT1 SLC20A2 158378 MLVAR, GLVR2, PiT-2, Glvr-2, Ram-1 SLC22A1 602607 OCT1 SLC22A12 607096 OAT4L, RST, URAT1 ORCTL2, BWSCR1A, IMPT1, SLC22A1L, BWR1A, SLC22A18 602631 TSSC5, ITM SLC22A3 604842 OCT3, EMT SLC22A4 604190 DFNB60, OCTN1, MGC34546 SLC22A5 603377 CDSP, OCTN2, SCD NCKX1, NCKX, RODX, KIAA0702, HsT17412, SLC24A1 603617 CSNB1D SLC24A2 609838 NCKX2 SLC24A4 609840 NCKX4 SLC24A5 609802 JSX, OCA6 SLC25A1 190315 SLC20A3, CTP SLC25A10 606794 DIC SLC25A12 603667 Aralar SLC25A13 603859 CTLN2, CITRIN, ARALAR2 SLC25A15 603861 ORNT1, HHH, ORC1, D13S327 SLC25A19 606521 MCPHA, DNC, MUP1, TPC SLC25A20 613698 CACT, CAC SLC25A22 609302 GC1, FLJ13044, NET44, EIEE3 SLC25A26 611037 SLC25A3 600370 PHC SLC25A32 610815 MFTC SLC25A38 610819 FLJ20551 SLC25A4 103220 PEO3, PEO2, ANT1, T1 SLC25A40 610821 MCFP SLC25A42 610823 MGC26694 SLC25A46 610826 SLC26A1 610130 SAT-1, EDM4 SLC26A2 606718 DTD, DTDST SLC26A3 126650 DRA, CLD SLC26A4 605646 DFNB4, PDS

Page 102 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases SLC26A5 604943 PRES, DFNB61 SLC26A8 608480 SLC27A4 604194 FATP4, ACSVL4 FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, SLC27A5 603314 FLJ22987, ACSVL6, ACSB SLC28A1 606207 CNT1 SLC28A3 608269 CNT3 SLC29A1 602193 ENT1 SLC29A2 602110 ENT2, HNP36, DER12 SLC29A3 612373 ENT3, FLJ11160 SLC29A4 609149 FLJ34923, ENT4 SLC2A1 138140 GLUT1, GLUT, HTLVR, CSE, DYT18, DYT9 SLC2A10 606145 GLUT10 SLC2A2 138160 GLUT2 SLC2A4 138190 GLUT4 SLC2A9 606142 Glut9, GLUTX, URATv1 SLC30A10 611146 DKFZp547M236, ZnT-10, ZRC1, ZNT8 SLC30A2 609617 ZNT2 SLC30A3 602878 ZNT3 SLC31A1 603085 COPT1, hCTR1, CTR1 SLC33A1 603690 ACATN, SPG42, AT-1, AT1 SLC34A1 182309 NPT2, SLC17A2, NAPI-3, NPTIIa, SLC11 SLC34A2 604217 NAPI-3B SLC34A3 609826 NPTIIc, FLJ38680 SLC35A1 605634 CMPST, hCST SLC35A2 314375 UGALT, UGAT, UGT, UGT1, UGT2, UGTL SLC35A3 605632 SLC35C1 605881 FUCT1, FLJ11320 SLC35D1 610804 UGTREL7, KIAA0260 SLC35D3 612519 FRCL1 SLC36A2 608331 PAT2, tramdorin, TRAMD1 SLC37A4 602671 G6PT1, G6PT2, G6PT3, GSD1b, GSD1c, GSD1d SLC38A8 615585 SLC39A13 608735 FLJ25785 SLC39A14 608736 KIAA0062, NET34, ZIP14 SLC39A4 607059 AEZ, ZIP4, AWMS2 SLC39A5 608730 SLC39A8 608732 BIGM103 NM_001135148.1: 1 SLC3A1 104614 CSNU1, D2H, RBAT, ATR1, NBAT SLC40A1 604653 SLC11A3, MTP1, IREG1, FPN1, HFE4 SLC41A1 610801 MgtE SLC41A2 610802 DKFZP434K0427 SLC41A3 610803 FLJ20473 SLC45A2 606202 MATP, AIM-1, OCA4

Page 103 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases SLC46A1 611672 HCP1, MGC9564, PCFT SLC47A2 609833 FLJ31196, MATE2, MATE2-K SLC4A1 109270 EPB3, AE1, DI, WD, RTA1A, CD233, FR, SW, WR SLC4A10 605556 NBCn2, NCBE SLC4A11 610206 CHED2, CDPD1, dJ794I6.2, BTR1, NaBC1, FECD4

SLC4A4 603345 SLC4A5, NBC1, HNBC1, NBC2, pNBC, hhNMC GPR172B, FLJ10060, GPCR42, PAR2, hRFT1, SLC52A1 607883 RFVT1 GPR172A, FLJ11856, PAR1, GPCR41, SLC52A2 607882 D15Ertd747e, RFVT2, hRFT3 SLC52A3 613350 C20orf54, bA371L19.1, hRFT2, RFVT3 SLC5A1 182380 SGLT1, D22S675, NAGT SLC5A2 182381 SGLT2 SLC5A5 601843 NIS SLC5A7 608761 hCHT, CHT1 SLC6A1 137165 GAT1, GABATR, GABATHG SLC6A11 607952 GAT3 SLC6A12 603080 BGT-1 SLC6A13 615097 GAT2 SLC6A17 610299 SLC6A19 608893 SLC6A2 163970 NET1, NAT1, SLC6A5, NET SLC6A20 605616 XT3, Xtrp3 SLC6A3 126455 DAT1, DAT SLC6A4 182138 HTT, OCD1, 5-HTT, SERT1 SLC6A5 604159 NET1, GLYT2 SLC6A8 300036 CRTR, CT1 SLC6A9 601019 GLYT1 SLC7A14 615720 KIAA1613, PPP1R142 SLC7A2 601872 ATRC2, CAT-2, HCAT2 SLC7A3 300443 CAT-3, ATRC3, FLJ14541 SLC7A7 603593 LPI, y+LAT-1 SLC7A9 604144 CSNU3 SLC9A1 107310 APNH, NHE1, PPP1R143 SLC9A3 182307 NHE3 SLC9A3R1 604990 NHERF, EBP50, NHERF1 SLC9A6 300231 NHE6, KIAA0267 SLC9A9 608396 FLJ35613, NHE9 SLCO1B1 604843 SLC21A6, OATP-C, LST-1, OATP1B1 SLCO1B3 605495 SLC21A8, OATP8, OATP1B3 SLCO2A1 601460 SLC21A2, MATR1, PGT, OATP2A1 SLCO3A1 612435 SLC21A11, OATP-D, OATP3A1 SLFN14 614958

Page 104 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases SLIT2 603746 SLIL3, Slit-2 SLITRK1 609678 LRRC12, KIAA1910 SLITRK5 609680 LRRC11, bA364G4.2, KIAA0918 SLITRK6 609681 FLJ22774 SLMAP 602701 SLAP, KIAA1601 SLURP1 606119 ARS, ANUP, MDM, ArsB, LY6LS SLX4 613278 BTBD12, KIAA1784, KIAA1987, FANCP SMAD1 601595 MADH1, MADR1, JV4-1 SMAD2 601366 MADH2, MADR2, JV18-1 SMAD3 603109 MADH3, JV15-2, HsT17436 SMAD4 600993 MADH4, DPC4 SMAD6 602931 MADH7, MADH6, HsT17432 SMAD9 603295 MADH6, MADH9, SMAD8, SMAD8/9 SNF2L2, BAF190, hSNF2a, hBRM, Sth1p, SMARCA2 600014 SNF2LA, BRM, SNF2, SWI2 SNF2L4, hSNF2b, BRG1, BAF190, SNF2, SWI2, SMARCA4 603254 SNF2-BETA, SNF2LB, FLJ39786 ETL1, DKFZP762K2015, KIAA1122, SMARCAD1 612761 DKFZp762K2015 SMARCAL1 606622 HHARP, HARP SNF5L1, BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, SMARCB1 601607 PPP1R144, SNF5 SMARCE1 603111 BAF57 SMC1A 300040 SMC1L1, DXS423E, KIAA0178, SB1.8, Smcb SMC3 606062 CSPG6, HCAP, BAM, SMC3L1, bamacan SMCHD1 614982 KIAA0650, FSHD2 NM_015092.4: 3, 6, 8, 11, 21-22, SMG1 27 607032 LIP, KIAA0421, ATX

KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG5 610962 SMG-5, EST1B SMG6 610963 C17orf31, KIAA0732, SMG-6, EST1A SMG7 610964 C1orf16, KIAA0250, EST1C, SGA56M, SMG-7 SMG8 613175 C17orf71, FLJ10587, FLJ23205 SMG9 613176 C19orf61, FLJ12886 SMO 601500 SMOH, FZD11 SMOC1 608488 SMOC2 607223 SMAP2 SMPD1 607608 ASM SMPX 300226 DFN6, DFNX4 SMS 300105 SRS, SPMSY, SpS, MRSR SNAI2 602150 SLUG, SLUGH1, SNAIL2, SLUGH SNAP, SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, SNAP25 600322 dJ1068F16.2 SNAP29 604202 SNAP-29, CEDNIK

Page 105 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases SNCA 163890 PARK1, PARK4, NACP, PD1 SNCAIP 603779 SYPH1 SNCB 602569 SNIP1 608241 PML1 SNORA2C 615487 SNORA34, ACA34 ASCC3L1, RP33, U5-200KD, HELIC2, KIAA0788, SNRNP200 601664 BRR2 SNRPB 182282 SNRPB1, COD, SmB/SmB', Sm-B/B', snRNP-B SNRPE 128260 Sm-E PWCR, SMN, SM-D, HCERN3, SNRNP-N, SNURF- SNRPN 182279 SNRPN, RT-LI SNTA1 601017 SNT1, TACIP1, LQT12 SNX10 614780 SNX14 616105 RGS-PX2 SNX27 611541 MY014, KIAA0488, MGC20471 SOBP 613667 FLJ10159 SOCS3 604176 SSI-3, CIS3, SOCS-3, Cish3 SOCS4 616337 SOCS7 SOCS4, CIS4, SSI4, HSPC060, STATI4, STAI4, SOCS6 605118 Cish4 SOD1 147450 ALS, ALS1, IPOA SOD2 147460 SOD3 185490 EC-SOD C9orf157, NOHLH, TEB2, bA100C15.3, SOHLH1 610224 bHLHe80, SPATA27 SOHLH2 616066 FLJ20449, TEB1, bHLHe81, SPATA28 C21orf50, DBP-5, NREBP, KIAA1019, BASS1, SON 182465 FLJ21099, FLJ33914 SORL1 602005 C11orf32, gp250, LR11, LRP9, SorLA, SorLA-1 SORT1 602458 Gp95, NT3 SOS1 182530 GINGF, HGF, GF1 SOS2 601247 SOST 605740 VBCH, DAND6 SOX10 602229 DOM, WS4, WS2E SOX11 600898 SOX17 610928 SOX18 601618 SOX2 184429 SOX3 313430 PHP SOX5 604975 L-SOX5, MGC35153 SOX6 607257 SOX9 608160 CMD1, CMPD1, SRA1 SP110 604457 IFI41, IFI75 SP7 606633 osterix, OSX

Page 106 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases

SPACA6 NCRNA00085, LINC00085, SPACA6P, LET7EH SPACA6P-AS LINC01129 SPAG1 603395 SP75, FLJ32920, HSD-3.8, TPIS, CT140, CILD28 SPARC 182120 ON SPART 607111 SPG20, KIAA0610, TAHCCP1 SPAST 604277 SPG4, FSP2, ADPSP, KIAA1083 SPATA16 609856 NYD-SP12 SPATA5 613940 SPAF, AFG2 SPATA7 609868 LCA3, HSD3 SPDL1 616401 CCDC99, FLJ20364, hSpindly SPECC1L 614140 CYTSA, KIAA0376 APEG1, MGC12676, KIAA1297, SPEGalpha, SPEG 615950 SPEGbeta, BPEG, MYLK6 SPG11 610844 KIAA1840, FLJ21439 SPG21 608181 ACP33, GL010, BM-019, MAST SPG7 602783 CMAR, CAR, SPG5C SPINK1 167790 Spink3, PCTT, PSTI, TATI VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, SPINK5 605010 FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184 SPINT2 605124 Kop, HAI-2 SPOCK1 602264 TIC1, SPOCK, testican-1 SPOP 602650 TEF2, BTBD32 SPP1 166490 BNSP, OPN, BSPI, ETA-1 SPP2 602637 SPP24 SPR 182125 SDR38C1 SPRED1 609291 FLJ33903, PPP1R147 SPRED2 609292 Spred-2, FLJ21897, FLJ31917 SPRED3 609293 SPRTN 616086 C1orf124, DKFZP547N043, Spartan, DVC1 SPRY2 602466 hSPRY2 SPRY4 607984 SPTA1 182860 EL2 SPTAN1 182810 SPTB 182870 SPTBN2 604985 SCA5 SPTBN5 605916 HUSPECV, BSPECV, HUBSPECV NM_006415.3: 3 SPTLC1 NM_001281303.1: 3 605712 HSN1, LCB1, SPTI, HSAN1, hLCB1 NM_178324.2: 3 SPTLC2 605713 KIAA0526, LCB2, LCB2A, hLCB2a SPTLC3 611120 C20orf38, SPTLC2L, LCB2B, FLJ11112, hLCB2b SQSTM1 601530 PDB3, OSIL, p62, p60, p62B, A170

Page 107 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases SRA1 603819 SRA, STRAA1 SRC 190090 SRC1, ASV, c-src SRCAP 611421 KIAA0309, EAF1, SWR1, DOMO1 SRD5A2 607306 SRD5A3 611715 FLJ13352, SRD5A2L, SRD5A2L1 SREBF1 184756 SREBP1, bHLHd1, SREBP-1c, SREBP1a SREBF2 600481 SREBP2, bHLHd2 SRGAP1 606523 KIAA1304, ARHGAP13 SRGAP3 606525 SRGAP2, KIAA0411, MEGAP, WRP, ARHGAP14 SRI 182520 SRP68 604858 SRP72 602122 SRPK2 602980 SFRSK2 SRPK3 301002 STK23, MSSK1 SRPX2 300642 SRPUL SRRM2 606032 SRm300, SRL300, KIAA0324, Cwc21 SRY 480000 TDF SS18L1 606472 KIAA0693, CREST SSH1 606778 KIAA1298 SSR4 300090 TRAPD SSTR5 182455 SSX1 312820 CT5.1 ST14 606797 PRSS14, SNC19, HAI, MT-SP1, TMPRSS14 ST3GAL3 606494 SIAT6, MRT12 ST3GAL5 604402 SIAT9, ST3GalV, SIATGM3S ST5 140750 HTS1, DENND2B, p126 ST6GALNAC5 610134 SIAT7E, MGC3184, ST6GalNAcV FAM4A1, TSG7, SEN4, ETS7q, HELG, RAY1, ST7 600833 FAM4A STAC3 615521 MGC2793 STAG1 604358 SA-1, SCC3A, SA1 NM_012447.3: 10 NM_001282718.1: 8 STAG3 608489 NM_001282716.1: 10 NM_001282717.1: 10 STAMBP 606247 AMSH STAP1 604298 STAP-1, BRDG1 STAR 600617 StAR, STARD1 STAT1 600555 STAT91, ISGF-3 STAT2 600556 STAT113 STAT3 102582 APRF STAT4 600558 NM_012448.3: 6-8 STAT5B 604260 STEAP3 609671 TSAP6, dudlin-2, STMP3

Page 108 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases STH 607067 MAPTIT STIL 181590 SIL, MCPH7 STIM1 605921 GOK, D11S4896E STK11 602216 PJS, LKB1 STK4 604965 MST1, KRS2, YSK3 STN1 613128 OBFC1, FLJ22559, bA541N10.2 NM_152709.4: 1 NM_001130161.2: 1 STOX1 609397 C10orf24, FLJ25162 NM_001130159.2: 1 NM_001130160.2: 1 STRA6 610745 FLJ12541 STRADA 608626 NY-BR-96, LYK5, Stlk, STRAD STRADB 607333 ALS2CR2, CALS-21, PAPK, ILPIPA, ILPIP STS 300747 ARSC1, ARSC STT3A 601134 ITM1, TMC, MGC9042, STT3-A STT3B 608605 SIMP, FLJ90106, STT3-B STUB1 607207 UBOX1, CHIP, SDCCAG7, HSPABP2, NY-CO-7 STX11 605014 STX16 603666 hsyn16, SYN16 STX1A 186590 STX1, HPC-1, p35-1 STX1B 601485 STX1B1, STX1B2 STX3 600876 STX3A STX6 603944 STX7 603217 STXBP1 602926 hUNC18, MUNC18-1, UNC18, rbSec1 STXBP2 601717 UNC18B, Hunc18b STXBP5L 609381 KIAA1006, LLGL4 STYXL1 616695 DUSP24, MK-STYX SUCLA2 603921 SUCLG1 611224 SUCLG2 603922 SUCO C1orf9, CH1, SLP1, OPT SUFU 607035 SUFUH, SUFUXL, PRO1280 SUGCT 609187 C7orf10, FLJ11808, ORF19, DERP13 SULF1 610012 KIAA1077, SULF-1, hSulf-1 SUMF1 607939 FGE, UNQ3037 UBL1, PIC1, GMP1, SMT3C, SUMO-1, SMT3H3, SUMO1 601912 OFC10 SUN1 607723 UNC84A, KIAA0810, FLJ12407 SUN2 613569 UNC84B SUN5 613942 SPAG4L, dJ726C3.1, TSARG4 SUOX 606887 FACT, FACTP140, SPT16/CDC68, FLJ14010, SUPT16H 605012 FLJ10857, CDC68 SUPT5H 602102 SPT5H, SPT5, FLJ34157

Page 109 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases SURF1 185620 SV2A 185860 SV2, KIAA0736 SYCE1 611486 C10orf94, bA108K14.6, CT76 SYCP3 604759 SYN1 313440 NM_133625.4: 1-2 SYN2 600755 SYNII, SYNIIa, SYNIIb NM_003178.5: 1-2 SYN3 602705 NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, SYNCRIP 616686 HNRNPQ C6orf98, SYNE-1B, KIAA0796, 8B, Nesprin-1, SYNE1 608441 enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1 SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, SYNE2 608442 NUA, KIAA1011, Nesp2 SYNE4 615535 C19orf46, DFNB76, FLJ36445, Nesprin-4, Nesp4 SYNGAP1 603384 SYNGAP, RASA5, KIAA1938 SYNGR1 603925 SYNJ1 604297 INPP5G, PARK20 SYNPO 608155 KIAA1029 SYP 313475 MRX96 SYT1 185605 SYT, SVP65, P65 NM_001146261.2: 3 SYT14 610949 sytXIV, FLJ34198 NM_001146264.2: 3 SYT2 600104 C1orf84, KIAA0467, FLJ10387, SZT2B, RP11- SZT2 615463 506B15.1, FLJ34502, SZT2A TAB2 605101 MAP3K7IP2, KIAA0733 TAC3 162330 NKNB, ZNEUROK1, NKB TACC2 605302 AZU-1 TACO1 612958 CCDC44 TACR3 162332 NK3R, NKR, TAC3R, NK3 TACSTD2 137290 M1S1, TROP2, GA733-1, EGP-1 TADA2A 602276 TADA2L, ADA2, hADA2, ADA2A TAF2A, BA2R, CCG1, CCGS, DYT3, NSCL2, TAF1 313650 TAFII250, KAT4, DYT3/TAF1 TAF15 601574 TAF2N, hTAFII68, RBP56, Npl3 TAF2 604912 TAF2B, TAFII150, CIF150 TAF4B 601689 TAF2C2, TAFII105 TAF6 602955 TAF2E, TAFII70, TAFII80, MGC:8964, TAFII85 TAL1 187040 TCL5, SCL, bHLHa17 TAL2 186855 bHLHa19 TALDO1 602063 TANC1 611397 KIAA1728, ROLSB

Page 110 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases DKFZP564D166, FLJ10215, FLJ11824, TANC2 615047 KIAA1148, KIAA1636, rols, ROLSA TANGO2 616830 C22orf25, DKFZp761P1121 TAP1 170260 ABCB2, PSF1, RING4, D6S114E TAP2 170261 ABCB3, PSF2, RING11, D6S217E TAPBP 601962 TAPA TAPT1 612758 FLJ90013 TARDBP 605078 TDP-43, ALS10 TARS2 612805 TARSL1, FLJ12528 TAS2R16 604867 T2R16 TAS2R38 607751 PTC, T2R61 TAT 613018 TAX1BP3 616484 TIP-1 TAZ 300394 CMD3A, EFE2, EFE, BTHS, XAP-2, G4.5, TAZ1 TBC1D1 609850 TBC, TBC1, KIAA1108 TBC1D20 611663 C20orf140, dJ852M4.2 TBC1D24 613577 DFNB86, KIAA1171, TLDC6, DFNA65 C6orf171, C6orf170, FLJ30899, dJ310J6.1, TBC1D32 615867 FLJ34235, bA57L9.1, BROMI TBC1D4 612465 KIAA0603, AS160, DKFZp779C0666 TBC1D7 612655 dJ257A7.3, FLJ32666 TBCD 604649 TBCE 604934 KCS, HRD, KCS1, pac2 TBCK 616899 MGC16169, HSPC302 TBK1 604834 NAK TBL1X 300196 TBL1, EBI TBL1XR1 608628 IRA1, FLJ12894, TBLR1, C21, DC42 TBP 600075 GTF2D1, SCA17, TFIID TBR1 604616 NM_080647.1: 3 TBX1 NM_080646.1: 3 602054 VCF, CATCH22 NM_005992.1: 3 TBX15 604127 TBX14 TBX18 604613 TBX19 604614 dj747L4.1, TPIT TBX2 600747 NM_001077653.2: 8 TBX20 606061 TBX21 604895 TBLYM, T-bet TBX22 300307 CPX, CLPA TBX3 601621 UMS, TBX3-ISO, XHL TBX4 601719 TBX5 601620 HOS TBX6 602427 TBXA2R 188070

Page 111 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases TBXAS1 274180 CYP5, CYP5A1, THAS, TXS, TXAS, TS TBXT 601397 T TCAP 604488 LGMD2G, T-cap, TELE, telethonin, CMD1N TCF12 600480 HEB, HTF4, HsT17266, bHLHb20, p64 TCF20 603107 AR1, SPBP TCF21 603306 POD1, bHLHa23 E2A, ITF1, MGC129647, MGC129648, bHLHb21, TCF3 147141 VDIR, E47, p75 TCF4 602272 SEF2-1B, ITF2, bHLHb19, E2-2 TCF7L1 604652 TCF3 TCF7L2 602228 TCF4, TCF-4 TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, TCIRG1 604592 ATP6V0A3 TCL1A 186960 TCL1 TCN1 189905 TCI, TC1 TCN2 613441 D22S676, D22S750, TC2 TCOF1 606847 treacle, TCS TCTEX1D2 617353 MGC33212 TCTN1 609863 FLJ21127, TECT1, JBTS13 NM_001173976.1: 2 TCTN2 613846 C12orf38, FLJ12975, TECT2, MKS8, JBTS24 TCTN3 613847 C10orf61, DKFZP564D116, TECT3, JBTS18 NM_003212.3: 6 TDGF1 187395 CRIPTO, CR, Cripto-1, CR-1 NM_001174136.1: 6 TDP1 607198 FLJ11090, SCAN1 TDP2 605764 TTRAP TDRD7 611258 PCTAIRE2BP TEAD1 189967 TCF13, AA, TEF-1 TECPR2 615000 KIAA0329 NM_138501.5: 13 TECR 610057 SC2, GPSN2, TER, MRT14 NM_001321170.1: 14 GPSN2L, SRD5A2L2, DKFZp313D0829, TECRL 617242 DKFZp313B2333, TERL TECTA 602574 DFNA12, DFNA8, DFNB21 TEK 600221 VMCM, TIE2, TIE-2, VMCM1, CD202b TELO2 611140 KIAA0683, hCLK2, TEL2 TENM1 300588 ODZ3, TNM, ODZ1, TEN-M1 TENM3 610083 ODZ3, Ten-M3, KIAA1455 TENM4 610084 ODZ4, KIAA1302, Ten-M4 TERC 602322 TR, hTR, TRC3, SCARNA19 TERF2IP 605061 RAP1 TERT 187270 TRT, TP2, TCS1, hEST2, EST2 TESK2 604746 TET2 612839 KIAA1546, FLJ20032 NM_001003811.1: 3 TEX11 300311 TSGA3, TGC1

Page 112 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases TEX15 605795 CT42 TF 190000 PRO1557, PRO2086 TFAM 600438 TCF6, TCF6L2 TFAP2A 107580 TFAP2, AP2TF, AP-2 TFAP2B 601601 AP2-B TFCP2 189889 CP2, LSF, LBP-1C, TFCP2C TFE3 314310 TFEA, bHLHe33 TFG 602498 TF6, FLJ36137, SPG57 TFR2 604720 HFE3, TFRC2 TFRC 190010 CD71, TFR1, p90 TG 188450 TGN, AITD3 TGDS 616146 TDPGD, SDR2E1 TGFB1 190180 TGFB, DPD1, CED, TGFbeta TGFB2 190220 TGFB3 190230 ARVD1, ARVD TGFBI 601692 CSD3, LCD1, CSD1, CSD2, BIGH3, CDB1, CDGG1

TGFBR1 190181 MSSE, ESS1, ALK-5, ACVRLK4, ALK5, TBRI, TBR-i TGFBR2 190182 MFS2, TBRII, TBR-ii TGFBR3 600742 betaglycan, BGCAN TGIF1 602630 HPE4, TGIF TGM1 190195 ICR2, TGASE, TGK, LI, LI1 TGM2 190196 TGC TGM3 600238 TGE TGM5 603805 TGX, TGMX TGM6 613900 TGM3L, dJ734P14.3, TGY, SCA35 TH 191290 DYT5b THAP1 609520 DYT6, FLJ10477, 4833431A01Rik THBD 188040 CD141 THBS1 188060 TSP1, THBS, TSP, THBS-1, TSP-1 THG1L ICF45, FLJ11601, FLJ20546, IHG-1, hTHG1 THOC2 300395 CXorf3, MRX12, MRX35, THO2, dJ506G2.1 THOC6 615403 WDR58, MGC2655, fSAP35 THPO 600044 MGDF, TPO, MPLLG THRA1, THRA2, ERBA1, EAR-7.1/EAR-7.2, THRA 190120 THRA3, AR7, ERBA, NR1A1 ERBA2, PRTH, THRB1, THRB2, NR1A2, THR1, THRB 190160 ERBA-BETA, GRTH THSD1 616821 TMTSP TIA1 603518 TIAM1 600687 TICAM1 607601 TRIF, TICAM-1, MGC35334, PRVTIRB TIMM44 605058 TIM44 TIMM8A 300356 DFN1, DDP, MTS TIMP3 188826 SFD

Page 113 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases TINF2 604319 TIN2 TIRAP 606252 Mal, wyatt TJP2 607709 DFNA51, ZO-2, X104, ZO2 TK2 188250 SCA31 TKT 606781 NM_001258028.1: 5 TLE6 612399 FLJ14009, GRG6 TLL1 606742 TLR2 603028 TIL4, CD282 TLR3 603029 CD283 TLR4 603030 hToll, CD284, TLR-4, ARMD10 TLR9 605474 CD289 TM2D3 610014 BLP2, FLJ22604 TM4SF20 615404 FLJ22800, TCCE518 TMC1 606706 DFNA36, DFNB7, DFNB11 TMC2 606707 C20orf145, dJ686C3.3 TMC6 605828 EVER1, LAK-4P, EVIN1 TMC8 605829 EVER2, EVIN2 TMCO1 614123 TMCC4, HP10122 TMCO3 617134 C13orf11, FLJ20623 TMEM107 616183 MGC10744 TMEM126A 612988 DKFZp586C1924, OPA7 TMEM126B 615533 HT007 TMEM127 613403 FLJ20507, FLJ22257 TMEM132D 611257 KIAA1944, MOLT, PPP1R153 TMEM132E 616178 DFNB99 TMEM135 616360 FLJ22104 TMEM138 614459 HSPC196, JBTS16 TMEM165 614726 TMPT27, TPARL, GDT1 TMEM173 612374 FLJ38577, NET23, ERIS, MPYS, STING, MITA TMEM187 300059 CXorf12, ITBA1, DXS9878E TMEM199 616815 C17orf32, MGC45714, VPH2, VMA12 TMEM216 613277 CORS2, MKS2, MGC13379, HSPC244, JBTS2 NM_001009923.1: 2 TMEM230 617019 C20orf30, HSPC274 NM_001077416.2: 2-3 TMEM231 614949 FLJ22167, ALYE870, PRO1886, JBTS20, MKS11 NM_001077418.2: 3-4 TMEM237 614423 ALS2CR4, JBTS14 TMEM240 616101 C1orf70, SCA21 TMEM259 611011 C19orf6, MGC4022, ASBABP1, MBRL C9orf87, FLJ10493, bA219P18.1, D4Ertd89e, TMEM38B 611236 TRIC-B TMEM43 612048 ARVD5, MGC3222, DKFZp586G1919, LUMA TMEM67 609884 MKS3, MGC26979, JBTS6, NPHP11 TMEM70 612418 FLJ20533 TMEM92 FLJ33318

Page 114 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases TMEM98 615949 DKFZP564K1964 TMIE 607237 DFNB6 NM_018196.3: 7-8 TMLHE 300777 TMLH, FLJ10727, BBOX2, XAP130 NM_001184797.1: 7 TMPO 188380 TP, LAP2, LEMD4 TMPRSS15 606635 PRSS7, ENTK, MGC133046 TMPRSS3 605511 DFNB10, DFNB8 TMPRSS4 606565 TMPRSS3, MT-SP2 TMPRSS5 606751 MGC141886, MGC148044 TMPRSS6 609862 FLJ30744 TMTC3 617218 FLJ90492, SMILE TMX3 616102 TXNDC10, FLJ20793, KIAA1830, PDIA13 TNC 187380 HXB, DFNA56, TN, MGC167029 TNF 191160 TNFA, TNFSF2, DIF, TNF-alpha TNFAIP3 191163 A20, OTUD7C DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, TNFRSF10B 603612 CD262, TRAILR2 NM_003839.3: 1 NM_001270950.1: 1 TNFRSF11A NM_001270951.1: 1 603499 PDB2, LOH18CR1, RANK, CD265, FEO NM_001270949.1: 1 NM_001278268.1: 1 TNFRSF11B 602643 OPG, OCIF, TR1 TNFRSF13B 604907 TACI, CD267, IGAD2 TNFRSF13C 606269 BAFFR, CD268 TNFR1, TNF-R, TNFAR, TNFR60, TNF-R-I, TNFRSF1A 191190 NM_001346092.1: 6 CD120a, TNF-R55 TNFRSF4 600315 TXGP1L, ACT35, OX40, CD134 TNFRSF6B 603361 DcR3, DCR3, TR6, M68 TNFSF11 602642 TRANCE, RANKL, OPGL, ODF, CD254 TNFSF12 602695 TWEAK, DR3LG, APO3L TNFSF4 603594 TXGP1, OX-40L, gp34, CD252 TNFSF8 603875 CD30LG, CD153 TNIK 610005 KIAA0551 TNK2 606994 p21cdc42Hs, ACK, ACK1 TNNC1 191040 TNNC TNNI2 191043 AMCD2B, FSSV, DA2B TNNI3 191044 CMD2A, TNNC1, CMH7 TNNI3K 613932 CARK ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, TNNT1 191041 NEM5 TNNT2 191045 CMH2, CMD1D, CMPD2 TNNT3 600692 AMCD2B, DA2B, FSSV, DKFZp779M2348 TNPO3 610032 LGMD1F, TRN-SR, MTR10A, TRN-SR2, IPO12 TNR 601995

Page 115 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases NM_019105.6: 32-44 TNXB 600985 TNXB1, TNXB2, TNXBS, XBS, XB NM_032470.3: 1-13 TOE1 613931 hCaf1z TOMM20 601848 KIAA0016, TOM20, MOM19, MAS20 TOMM40 608061 PEREC1, D19S1177E, C19orf1, TOM40, PER-EC1 TONSL 604546 NFKBIL2, IKBR TOP1 126420 TOP2A 126430 TOP2 TOPBP1 607760 KIAA0259, TOP2BP1, Dpb11 TOPORS 609507 RP31, TP53BPL, LUN TOR1A 605204 DYT1, DQ2 TOR1AIP1 614512 LAP1B, FLJ13142 TP53 191170 p53, LFS1 TP73L, TP53L, TP53CP, p51, SHFM4, EEC3, p63, TP63 603273 p73L, OFC8, KET, p73H, NBP, p53CP TPH1 191060 TPRH, TPH TPH2 607478 NTPH, FLJ37295 TPI1 190450 TPK1 606370 HTPK1, PP20 TPM1 191010 C15orf13, CMH3 TPM2 190990 AMCD1, DA1, NEM4 TPM3 191030 NEM1, TRK TPMT 187680 TPO 606765 TPX TPP1 607998 CLN2, SCAR7 TPP2 190470 TPPII TPRN 613354 C9orf75, DFNB79, FLJ90254 TRAF1 601711 EBI6 TRAF3 601896 CAP-1, CD40bp, CRAF1, LAP1, RNF118 TRAF3IP1 607380 MIP-T3, DKFZP434F124, MIPT3, IFT54 C6orf4, C6orf5, C6orf6, C6orf2, TRAF3IP2 607043 DKFZP586G0522, ACT1, CIKS TRAF6 602355 RNF85 TRAIP 605958 TRIP, RNF206 ALS2CR3, CALS-C, KIAA0549, GRIF-1, OIP98, TRAK2 607334 MILT2 TRAP1 606219 HSP75, HSP90L TRAPPC11 614138 C4orf41, FLJ12716, gry, foigr SEDL, TRS20, SEDT, MIP-2A, ZNF547L, TRAPPC2 300202 hYP38334 TRAPPC9 611966 IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13 TRDN 603283 TREM2 605086 TREM-2, Trem2a, Trem2b, Trem2c TREML2 609715 C6orf76, FLJ13693, TLT2, dJ238O23.1

Page 116 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases TREML4 614664 TLT4 TREX1 606609 AGS1, DRN3 TRHR 188545 TRIB3 607898 C20orf97, dJ1103G7.3, TRB3 TRIM2 614141 KIAA0517, RNF86, CMT2R TRIM22 606559 STAF50, GPSTAF50, RNF94 TRIM32 602290 LGMD2H, HT2A, TATIP, BBS11 TRIM37 605073 MUL, KIAA0898, POB1, TEF3 TRIM44 612298 DIPB, MC7 TRIM54 606474 RNF30, MURF, MURF-3 TRIM55 606469 RNF29, MURF-2 TRIM63 606131 RNF28, MURF-1, IRF, SMRZ TRIM69 616017 RNF36, Trif, TRIMLESS TRIM8 606125 RNF27, GERP TRIML2 FLJ25801, SPRYD6 NM_007118.3: 1 TRIO 601893 ARHGEF23

TRIOBP 609761 DFNB28, HRIHFB2122, KIAA1662, Tara, TAP68 TRIP11 604505 CEV14, Trip230, GMAP-210, GMAP210 TRIP12 604506 KIAA0045 TRIP4 604501 HsT17391, ZC2HC5, ASC-1 TRIT1 617840 FLJ20061, IPT TRMT1 611669 FLJ20244, TRM1 TRMT10A 616013 RG9MTD2, MGC27034, TRM10 TRMT10C 615423 RG9MTD1, FLJ20432, MRPP1 TRMT5 611023 KIAA1393, TRM5 TRMU 610230 TRMT, FLJ10140, MTO2 TRNT1 612907 MtCCA, CGI-47, CCA1 TRPA1 604775 ANKTM1 TRPC3 602345 TRPC6 603652 FSGS2, TRP6 TRPM1 603576 MLSN1, LTRPC1, CSNB1C TRPC7, KNP3, LTRPC2, NUDT9L1, NUDT9H, TRPM2 603749 EREG1 TRPM3 608961 KIAA1616, LTRPC3, GON-2 TRPM4 606936 FLJ20041 TRPM6 607009 HOMG, HSH, CHAK2, FLJ22628 TRPM7 605692 CHAK1, LTRPC7, TRP-PLIK TRPS1 604386 LGCR, GC79 TRPV3 607066 VRL3 OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, TRPV4 605427 CMT2C TRRAP 603015 TR-AP, PAF400, Tra1 TSC1 605284 TSC, KIAA0243, LAM, hamartin TSC2 191092 TSC4, tuberin, LAM, PPP1R160

Page 117 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases TSEN15 608756 C1orf19 TSEN2 608753 SEN2, SEN2L, MGC2776 NM_001321278.1: 12 TSEN34 608754 LENG5, SEN34, SEN34L TSEN54 608755 SEN54, SEN54L TSFM 604723 EF-Tsmt, EF-TS TSG101 601387 TSG10, VPS23 TSHB 188540 TSHR 603372 LGR3 TSHZ1 614427 SDCCAG33, NY-CO-33, TSH1 TSPAN12 613138 TM4SF12, NET-2 MXS1, TM4SF2, MRX58, DXS1692E, TALLA-1, TSPAN7 300096 A15, CD231 TSPEAR 612920 C21orf29, DFNB98, MGC11251, TSP-EAR TSPYL1 604714 TSPYL TSR2 300945 DT1P1A10, RP1-112K5.2, WGG1 TTBK1 KIAA1855 TTBK2 611695 SCA11, KIAA0847 TTC19 613814 FLJ20343, MGC19520 TTC21B 612014 FLJ11457, JBTS11, NPHP12, IFT139B, THM1 TTC25 617095 DKFZP434H0115 TTC3 602259 TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105 TTC37 614589 KIAA0372, THES TTC7A 609332 TTC7, KIAA1140 TTC8 608132 BBS8, RP51 TTI1 614425 KIAA0406, smg-10 TTI2 614426 C8orf41, FLJ23263 TTLL10 TTLL5, FLJ36119 TTLL5 612268 KIAA0998 NM_133378.4: 153-155 CMD1G, CMPD4, FLJ32040, TMD, CMH9, TTN NM_001256850.1: 154-156 188840 LGMD2J, MYLK5 NM_001267550.2: 172, 174-197 TTPA 600415 AVED TTR 176300 PALB, CTS1, HsT2651, CTS TUB 601197 rd5 TUBA1A 602529 TUBA3, B-ALPHA-1, FLJ25113 NM_207312.2: 2 TUBA3E TUBA4A 191110 TUBA1, FLJ30169, H2-ALPHA TUBA8 605742 TUBAL2 TUBB 191130 OK/SW-cl.56, MGC16435, M40, Tubb5 TUBB1 612901 dJ543J19.4 NM_001069.2: 2, 4 TUBB2A 615101 TUBB, TUBB2, dJ40E16.7 NM_001310315.1: 4

Page 118 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases NM_178012.4: 4 TUBB2B 612850 MGC8685, DKFZp566F223, bA506K6.1 TUBB3 602661 FEOM3, beta-4, CFEOM3, CFEOM3A TUBB4A 602662 TUBB4, DYT4, beta-5 NM_177987.2: 4 TUBB8 616768 bA631M21.2 NM_001070.4: 3 TUBG1 191135 TUBG, TUBGCP1 TUBGCP4 609610 76P, FLJ14797 TUBGCP6 610053 GCP6, KIAA1669, DJ402G11.6 TUFM 602389 EFTu, EF-TuMT, EFTU TULP1 602280 RP14, TUBL1, LCA15 TUSC3 601385 MGC13453, N33, OST3A, MRT7, MagT2 ACS3, BPES3, TWIST, CRS, SCS, H-twist, BPES2, TWIST1 601622 bHLHa38, CRS1 TWIST2 607556 DERMO1, Dermo-1, bHLHa39 IOSCA, C10orf2, PEO, PEO1, TWINKLE, TWNK 606075 FLJ21832, TWINL TXN2 609063 MT-TRX TXNDC15 617778 C5orf14, 2310047H23Rik, FLJ22625 TXNL4, U5-15kD, DIM1, HsT161, DIB1, TXNL4A 611595 SNRNP15 TXNRD2 606448 TR, TRXR2, TR3 TYK2 176941 JTK1 TYMP 131222 MNGIE, ECGF1 TYMS 188350 TS, Tsase, TMS, HsT422 NM_000372.4: 5 TYR 606933 OCAIA, OCA1A, OCA1 TYROBP 604142 PLOSL, DAP12, PLO-SL, KARAP TYRP, CAS2, GP75, CATB, TRP, b-PROTEIN, TYRP1 115501 OCA3 UACA 612516 FLJ10128, KIAA1561 UBA1 314370 A1S9T, GXP1, UBE1, UBE1X, POC20, CFAP124 UBA3 603172 UBE1C, hUba3, NAE2 UBA5 610552 UBE1DC1, FLJ23251 UBE2A 312180 UBC2, HHR6A, RAD6A UBE2B 179095 UBC2, HHR6B, RAD6B UBE2T 610538 HSPC150, FANCT UBE3A 601623 EPVE6AP, HPVE6A, AS, ANCR, E6-AP, FLJ26981 UBE3B 608047 UBE3C 614454 KIAA0010, KIAA10 UBIAD1 611632 SCCD, TERE1 Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, UBQLN2 300264 PLIC-2, N4BP4, PLIC2

Page 119 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases UBR1 605981 UBR4 609890 ZUBR1, KIAA1307, KIAA0462, RBAF600 UBR5 608413 EDD1, DD5, HYD, EDD, KIAA0896 UBR7 613816 C14orf130 UCHL1 191342 PARK5, PGP9.5, Uch-L1 UCP1 113730 UCP, SLC25A7 UCP2 601693 BMIQ4, SLC25A8 UCP3 602044 SLC25A9 UFD1 601754 UFD1L UFSP2 611482 C4orf20, FLJ11200 UGDH 603370 UGT1A1 191740 UGT1, GNT1, UGT1A UGT1A4 606429 HUG-BR2, UGT1D UGT1A6 606431 HLUGP, GNT1, UGT1F UGT1A7 606432 UGT1G UGT1A9 606434 HLUGP4, LUGP4, UGT1AI UGT2B10 600070 NM_001076.3: 3 UGT2B15 600069 UGT2B8 UGT2B7 600068 UGT2B9 ULK4 617010 FLJ20574, REC01035, FAM7C1 UMOD 191845 UMPS 613891 UNC119 604011 HRG4, POC7, POC7A UNC13A 609894 KIAA1032, Munc13-1 UNC13D 608897 Munc13-4 UNC45B 611220 CMYA4, UNC45 UNC5C 603610 UNC80 612636 C2orf21, FLJ33496, KIAA1843, UNC-80 UNC93B1 608204 UNC93 UNG 191525 DGU, UDG, UNG1, UNG2, HIGM4 UPB1 606673 BUP1 NM_002911.3: 1 RENT1, HUPF1, KIAA0221, NORF1, pNORF1, UPF1 601430 NM_001297549.1: 1 smg-2 UPF2 605529 RENT2, DKFZP434D222, KIAA1408, smg-3 NM_023011.3: 9-10 UPF3A 605530 RENT3A, UPF3, HUPF3A NM_080687.2: 8-9 MRX62, UPF3BP1, UPF3BP2, UPF3BP3, UPF3B 300298 RENT3B, UPF3X, HUPF3B UPK3A 611559 UPK3 C6orf125, MNF1, MGC14833, bA6B20.2, M19, UQCC2 614461 Cbp6 UQCC3 616097 C11orf83, UNQ655 UQCRB 191330 UQBP, QP-C, QCR7, UQCR6 UQCRC2 191329 QCR2, UQCR2 UQCRQ 612080 QP-C, QCR8, UQCR7

Page 120 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases UROC1 613012 FLJ31300, HMFN0320 UROD 613521 UROS 606938 USB1 613276 C16orf57, FLJ13154, HVSL1, Mpn1 USF1 191523 UEF, MLTFI, bHLHb11 DFNB18, PDZ73, harmonin, NY-CO-37, NY-CO- USH1C 605242 38, PDZ-73, AIE-75, PDZD7C USH1G 607696 Sans, FLJ33924, ANKS4A USH2A 608400 USH2, RP39 NM_017414.3: 3-11 USP18 607057 USP26 300309 USP27X 300975 USP27 USP34 615295 KIAA0570, KIAA0729 USP44 610993 FLJ14528 USP8 603158 HumORF8, KIAA0055, UBPY, SPG59 USP9X 300072 DFFRX, FAF, MRX99 USP9Y 400005 DFFRY CIRH1A, NAIC, FLJ14728, KIAA1988, TEX292, UTP4 607456 CIRHIN UTRN 128240 DMDL, DRP, DRP1 UVSSA 614632 KIAA1530 VAC14 604632 TAX1BP2, FLJ10305, ArPIKfyve VAMP1 185880 SYB1, VAMP-1 VAMP2 185881 SYB2, VAMP-2 NM_005638.5: 2-8 VAMP7 NM_001145149.2: 2-7 300053 SYBL1, VAMP-7, TI-VAMP NM_001185183.1: 2-7 VANGL1 610132 STB2 KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, VANGL2 600533 MGC119403, MGC119404 VAPB 605704 VAP-B, VAP-C, ALS8 VARS 192150 VARS2 VARS2L, VARSL, DKFZP434L1435, KIAA1885, VARS2 612802 G7a VAV1 164875 VAV VAV3 605541 VAX1 604294 VCAN 118661 CSPG2, PG-M VCL 193065 VCP 601023 IBMPFD, p97, CDC48, TERA VDAC1 604492 MGC111064, PORIN VDR 601769 NR1I1, PPP1R163 VEGFA 192240 VEGF, VEGF-A, VPF VEGFC 601528 VRP VHL 608537 VHL1

Page 121 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases VIM 193060 C14orf133, VIPAR, VPS16B, SPE-39, SPE39, VIPAS39 613401 hSPE-39 VKORC1 608547 VKCFD2 VLDLR 192977 CARMQ1, CHRMQ1, VLDLRCH VMA21 300913 MEAX, XMEA VPREB1 605141 VpreB, CD179A VPS11 608549 RNF108, PEP5 VPS13A 605978 CHAC, KIAA0986 VPS13B 607817 CHS1, COH1 VPS13C 608879 FLJ20136, FLJ10381, KIAA1421 VPS16 608550 VPS33A 610034 VPS33B 608552 FLJ14848 VPS35 601501 FLJ10752, MEM3, PARK17 VPS37A 609927 PQBP2, FLJ32642, HCRP1, SPG53 VPS45 610035 VPS45B, VPS45A, h-vps45, H1 VPS4B 609983 SKD1, VPS4-2, SKD1B VPS53 615850 FLJ10979, HCCS1 VRK1 602168 VSIG4 300353 Z39IG, CRIg VSX1 605020 PPCD, PPD, PPCD1 VSX2 142993 HOX10, CHX10, RET1 VTN 193190 VN VWA3B 614884 DKFZp686F2227, MGC26733 NM_000552.4: 26, 34 VWF 613160 F8VWF Wwp4, FLJ31290, PRO1741, BM-016, WAC 615049 MGC10753 WAS 300392 IMD2, THC, WASP, WASPA WASHC4 615748 KIAA1033, SWIP WASHC5 610657 SPG8, KIAA0196 WBP2 606962 WBP-2, GRAMD6 WDPCP 613580 C2orf86, hFrtz, fritz, BBS15, CPLANE5 WDR1 604734 BRWD2, KIAA1351, FLJ10506, WDR15, HH14, WDR11 606417 DR11, SRI1 WDR13 300512 Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, WDR19 608151 Oseg6, IFT144, NPHP13 WDR26 617424 FLJ21016, GID7 WDR34 613363 DIC5, MGC20486, bA216B9.3, FAP133 WDR35 613602 MGC33196, KIAA1336, IFT121, IFTA1 WDR36 609669 GLC1G, TA-WDRP, UTP21 WDR4 605924 TRM82, TRMT82 WDR45 300526 WDRX1, JM5, WIPI4, NBIA5

Page 122 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases WDR45B 609226 WDR45L, WIPI3 WDR48 612167 KIAA1449, P80, SPG60 WDR5 609012 SWD3, CFAP89 WDR60 615462 FLJ10300, FAP163 WDR62 613583 C19orf14, MCPH2, DKFZP434J046, FLJ33298

WDR72 613214 FLJ38736 NM_001277176.1: 1 WDR73 616144 FLJ14888, HSPC264 WDR81 614218 FLJ33817, PPP1R166, CAMRQ2, SORF-2 WDR87 NYD-SP11 WDR93 WFS1 606201 DFNA6, DFNA14, DFNA38, DIDMOAD, WFS WHRN 607928 DFNB31, CIP98, USH2D, PDZD7B WIF1 605186 WIPF1 602357 WASPIP, WIP WNK1 605232 PRKWNK1, HSN2, HSAN2, PPP1R167 WNK4 601844 PRKWNK4 WNT1 164820 INT1 WNT10A 606268 WNT10B 601906 WNT-12, SHFM6 WNT3 165330 INT4, MGC131950, MGC138321, MGC138323 WNT4 603490 WNT-4 WNT5A 164975 hWNT5A WNT6 604663 WNT7A 601570 WNT8A 606360 WNT8D WNT9B 602864 WNT15, WNT14B WRAP53 612661 WDR79, FLJ10385, TCAB1 WRN 604611 RECQL2, RECQ3 WT1 607102 GUD, WAGR, WIT-2, AWT1, NPHS4 WWOX 605131 FOR, WOX1, SDR41C1 XAF1 606717 BIRC4BP, XIAPAF1, HSXIAPAF1 XBP1 194355 XBP2 XDH 607633 XOR, XO XIAP 300079 API3, BIRC4, hILP XIRP1 609777 CMYA1, DKFZp451D042, Xin XIRP2 609778 CMYA3 DXS399E, NCRNA00001, DXS1089, swd66, XIST 314670 LINC00001 XK 314850 NA, NAC, XKR1, Kx, X1k XPA 611153 XPAC, XP1 XPC 613208 XPCC, RAD4 XPNPEP3 613553 APP3, NPHPL1, ICP55

Page 123 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases XPO5 607845 KIAA1291 XPR1 605237 SYG1, X3, SLC53A1 XRCC1 194360 RCC XRCC2 600375 FANCU XRCC3 600675 XRCC4 194363 XYLT1 608124 XT-I, PXYLT1 XYLT2 608125 XT-II, PXYLT2 YAP1 606608 YAP65 YARS 603623 YTS, YRS, tyrRS YARS2 610957 FLJ13995, CGI-04, mt-TyrRS YEATS4 602116 NuBI-1, GAS41, YAF9 YME1L1 607472 YWHAE 605066 FLJ45465 YY1 600013 NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S NM_001198903.1: 9 NM_001198899.1: 7 NM_001198904.1: 9 NM_139121.2: 10 NM_001198906.1: 10 NM_139119.2: 10 YY1AP1 607860 YY1AP, HCCA2, YAP NM_001198905.1: 10 NM_001198902.1: 9 NM_139118.2: 10 NM_001198901.1: 9 NM_001198900.1: 9 NM_018253.3: 11 ZAP70 176947 SRK, ZAP-70, STD ZBTB16 176797 ZNF145, PLZF ZBTB18 608433 ZNF238, C2H2-171, TAZ-1, RP58 ZBTB20 606025 ZNF288, ODA-8S, DKFZp566F123, DPZF ZBTB24 614064 ZNF450, KIAA0441, BIF1, PATZ2 ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, ZBTB33 300329 KAISO, ZNF348 ZBTB40 612106 KIAA0478, ZNF923 ZBTB42 613915 ZNF925 ZC3H14 613279 FLJ11806, UKp68, NY-REN-37 ZC4H2 300897 KIAA1166, WWS, HCA127 ZCCHC12 300701 FLJ16123, SIZN, SIZN1, PNMA7A ZCCHC8 616381 DKFZp434E2220 ZDBF2 617059 FLJ45338, KIAA1571, Slx9 ZDHHC15 300576 FLJ31812, MRX91, DHHC15 ZDHHC9 300646 ZDHHC10, CXorf11, ZNF379, CGI-89, ZNF380

Page 124 of 126 Rapid Mendelian Sequencing Gene List December 2018

Gene Coding Exons Not Covered OMIM Number Gene Aliases TCF8, PPCD3, BZP, ZEB, AREB6, NIL-2-A, Zfhep, ZEB1 189909 Zfhx1a, FECD6 ZEB2 605802 ZFHX1B, KIAA0569, SIP-1, SIP1 ZFHX3 104155 ATBF1, ZNF927 ZFP36L1 601064 BRF1, RNF162B, Berg36, ERF1, TIS11B, cMG1 ZFP57 612192 C6orf40, ZNF698, bA145L22, bA145L22.2 ZFPM2 603693 FOG2, hFOG-2, ZNF89B, ZC2HC11B ZFR 615635 ZFR1, SPG71 ZFYVE26 612012 SPG15, KIAA0321 ZFYVE27 610243 FLJ32919, SPG33 ZHX3 609598 TIX1, KIAA0395 ZIC1 600470 ZIC, ZNF201 ZIC2 603073 HPE5 ZIC3 300265 HTX1, HTX, ZNF203 ZMPSTE24 606480 FACE-1, Ste24p, STE24, HGPS, PRO1 ZMYM3 300061 ZNF261, ZNF198L2, DXS6673E, KIAA0385, MYM ZMYM6 613567 ZNF258, ZNF198L4, MYM, Buster2, ZBED7 ZMYND10 607070 BLU, CILD22, DNAAF7 ZMYND11 608668 BS69 ZMYND15 614312 DKFZp434N127 ZNF141 194648 D4S90, pHZ-44 ZNF143 603433 SBF, pHZ-1, STAF BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ- ZNF148 601897 52 ZNF224 194555 ZNF255, ZNF27, BMZF-2, KOX22 ZNF335 610827 bA465L10.2, NIF-1 ZNF34 194526 KOX32 ZNF365 607818 KIAA0844, UAN ZNF407 615894 FLJ20307, FLJ13839, KIAA1703 ZNF408 616454 FLJ12827 ZNF41 314995 MGC8941, MRX89 KIAA0760, OAZ, hOAZ, Ebfaz, Zfp104, NPHP14, ZNF423 604557 JBTS19 ZNF469 612078 KIAA1858 ZNF512B 617886 GM632, MGC149845, MGC149846 ZNF513 613598 FLJ32203, RP58 ZNF526 614387 KIAA1951, MGC4267 ZNF528 615580 KIAA1827 ZNF543 616847 DKFZp434H055 ZNF589 616702 SZF1 NM_014630.2: 11 ZNF592 613624 SCAR5, KIAA0211, CAMOS ZNF644 614159 KIAA1221, BM-005, MGC60165, MGC70410 ZNF674 300573 MRX92, ZNF673B

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Gene Coding Exons Not Covered OMIM Number Gene Aliases ZNF687 610568 KIAA1441 ZNF6, CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, ZNF711 314990 MRX97 ZNF750 610226 FLJ13841, Zfp750 ZNF81 314998 MRX45, HFZ20 ZNHIT6 C1orf181, FLJ20729, NY-BR-75, BCD1 ZP1 195000 ZPBP 608498 SP38, ZPBP1 NM_020928.1: 1 ZSWIM6 615951 KIAA1577

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