#based on TRDEV 4 minus genes not known to cause MR + 51 genes by KV # As decided during the genomic clinic 31.10.2016, Marfan and Loeys-Dietz genes removed: FBN1, TGFBR1, TGFBR2 # Addition of 14 DDD genes (PMID: 28135719) on 22.02.2017 AAAS AARS2 ABAT ABCC9 ABCD1 ABCD4 ABHD5 ACAD8 ACAD9 ACADM ACADS ACAT1 ACO2 ACOX1 ACSF3 ACSL4 ACTB ACTG1 ACVR1 ACY1 ADAMTS10 ADAR ADCK3 ADK ADNP ADSL AFF2 AFF4 AGA AGPAT2 AGTR2 AHCY AHDC1 AHI1 AIFM1 AIMP1 AK1 AKT1 AKT3 ALDH18A1 ALDH3A2 ALDH4A1 ALDH5A1 ALDH7A1 ALDOA ALDOB ALG1 ALG11 ALG12 ALG13 ALG2 ALG3 ALG6 ALG9 ALX1 ALX3 ALX4 AMPD2 AMT ANKRD11 ANO10 AP1S2 AP3B1 AP4B1 AP4E1 AP4M1 AP4S1 APOPT1 APTX ARFGEF2 ARG1 ARHGAP31 ARHGEF6 ARHGEF9 ARID1A ARID1B ARL13B ARL6 ARNT2 ARSA ARSE ARX ASAH1 ASL ASNS ASPA ASPM ASXL1 ASXL3 ATIC ATM ATP13A2 ATP1A2 ATP1A3 ATP2A2 ATP5A1 ATP5E ATP6AP2 ATP6V0A2 ATP7A ATPAF2 ATR ATRIP ATRX AUH AUTS2 B3GALNT2 B3GALTL B3GNT1 B4GALT1 B4GALT7 B9D1 B9D2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAP31 BCKDHA BCKDHB BCKDK BCOR BCS1L BLM BMP4 BOLA3 BRAF BRAT1 BRF1 BRWD3 BSCL2 BTD BUB1B C10orf2 C11orf83 C12orf57 C12orf65 C19orf12 C20orf72 C2CD3 C5orf42 CA2 CA8 CACNA1C CACNA1D CACNG2 CAMTA1 CANT1 CASC5 CASK CBL CBS CC2D1A CC2D2A CCBE1 CCDC41 CCDC88C CCND2 CD96 CDC6 CDH15 CDK13 CDK5RAP2 CDK6 CDKL5 CDKN1C CDON CDT1 CENPE CENPJ CEP135 CEP152 CEP164 CEP290 CEP41 CEP57 CEP63 CHD2 CHD4 CHD7 CHD8 CHKB CHMP1A CHUK CKAP2L CLCN2 CLCNKB CLN3 CLN5 CLN6 CLN8 CLP1 CLPP CNOT3 CNTN2 CNTNAP2 COASY COG1 COG4 COG5 COG6 COG7 COG8 COL4A1 COL4A2 COL4A3BP COLEC11 COQ2 COQ9 COX10 COX14 COX15 COX20 COX4I2 COX6B1 COX7B CPS1 CRADD CRBN CREBBP CRIPT CRLF1 CSNK2A1 CSPP1 CTC1 CTCF CTDP1 CTNNB1 CTSA CTSD CUL4B CWF19L1 CYB5R3 CYP27A1 CYP2U1 D2HGDH DAG1 DARS2 DBT DCAF17 DCX DDC DDHD2 DDOST DDX11 DDX3X DDX59 DEAF1 DEPDC5 DGUOK DHCR24 DHCR7 DHFR DHTKD1 DIP2B DIS3L2 DKC1 DLAT DLD DLG3 DMD DMPK DMXL2 DNA2 DNAJC19 DNAJC6 DNM1 DNM1L DNMT3A DNMT3B DOCK6 DOCK7 DOCK8 DOK7 DOLK DPAGT1 DPM1 DPM2 DPYD DSE DST DYM DYNC1H1 DYRK1A EARS2 EBP ECHS1 ECM1 EEF1A2 EFNB1 EFTUD2 EGR2 EHMT1 EIF2AK3 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 ELAC2 ELOVL4 EMG1 EMX2 ENTPD1 EP300 EPB41L1 EPG5 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC6L2 ERCC8 ERLIN2 ESCO2 ETHE1 EXOSC3 EXOSC8 EZH2 FA2H FADD FAM123B FAM126A FAM20C FANCA FANCB FANCC FANCD2 FANCE FARS2 FASTKD2 FAT4 FBXL4 FBXO31 FGD1 FGD4 FGF14 FGFR1 FGFR2 FGFR3 FH FIG4 FKRP FKTN FLNA FLVCR1 FLVCR2 FMN2 FMR1 FOLR1 FOXG1 FOXP1 FOXP2 FOXRED1 FRAS1 FREM2 FTO FTSJ1 FUCA1 G6PC3 GABRA1 GABRB3 GABRG2 GAD1 GALC GALE GALT GAMT GAN GATA6 GATAD2B GATM GBA GBA2 GCDH GCH1 GCSH GDI1 GFAP GFER GFM1 GJB1 GJC2 GK GLB1 GLDC GLI2 GLI3 GLRB GLUL GLYCTK GM2A GMPPA GMPPB GNAI1 GNAO1 GNAS GNE GNPAT GNPTAB GNS GOSR2 GPC3 GPHN GPR56 GPSM2 GPT2 GRIA3 GRIK2 GRIN1 GRIN2A GRIN2B GRIP1 GRM1 GSS GTDC2 GTF2H5 GUSB H19 HADHA HADHB HARS HAX1 HCCS HCFC1 HCN1 HDAC4 HDAC6 HDAC8 HEPACAM HERC2 HESX1 HEXA HEXB HGSNAT HIBCH HLCS HMGB3 HNRNPK HOXA1 HPD HPRT1 HRAS HSD17B10 HSD17B4 HSPD1 HUWE1 HYLS1 IARS2 IBA57 ICK IDH2 IDS IDUA IER3IP1 IFIH1 IFT172 IFT27 IGBP1 IGF1 IGHMBP2 IKBKG IL1RAPL1 INPP5E IQSEC2 ISCA2 ISPD ITCH ITPR1 JAG1 JAM3 JPH3 KAL1 KANK1 KANSL1 KARS KAT6A KAT6B KATNB1 KCNA2 KCNC1 KCNC3 KCNH1 KCNJ10 KCNJ11 KCNJ6 KCNK9 KCNQ2 KCNQ3 KCNT1 KCTD7 KDM5C KDM6A KIAA0196 KIAA0226 KIAA1033 KIAA1279 KIAA2022 KIF11 KIF1A KIF2A KIF4A KIF5A KIF5C KIF7 KIRREL3 KMT5B KPTN KRAS L1CAM L2HGDH LAMA1 LAMA2 LAMB1 LAMB2 LAMC3 LAMP2 LARGE LARP7 LHX3 LIAS LIG4 LINS LMBRD1 LMNA LMNB1 LRP2 LRPPRC LYRM7 LYST LZTFL1 MAB21L2 MAGT1 MAN1B1 MAN2B1 MANBA MAOA MAP2K1 MAP2K2 MAPT MASP1 MAT1A MBD5 MBTPS2 MCCC1 MCCC2 MCOLN1 MCPH1 MECP2 MED12 MED13L MED17 MED23 MED25 MEF2C METTL23 MFN2 MFSD2A MFSD8 MGAT2 MGP MICU1 MID1 MID2 MIR17HG MKKS MKS1 MLC1 MLL MLL2 MLYCD MMAA MMAB MMACHC MMADHC MNF1 MOCS1 MOCS2 MOGS MPDU1 MPDZ MPLKIP MPV17 MPZ MRE11A MRPL3 MRPS16 MRPS22 MSL3 MTFMT MTHFR MTO1 MTOR MTR MTRR MUT MVK MYCN MYO5A MYT1L NAA10 NADKD1 NAGA NAGLU NAGS NALCN NAT8L NBN NDE1 NDP NDST1 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA2 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB3 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NECAP1 NEU1 NF1 NFIX NFU1 NGF NGLY1 NHEJ1 NHLRC1 NHP2 NHS NIN NIPBL NKX2-1 NLGN3 NLGN4X NLRP3 NOP10 NPC1 NPC2 NPHP1 NPHP3 NR2F1 NRAS NRXN1 NSD1 NSDHL NSUN2 NT5C2 NTRK1 NTRK2 NUBPL NUP62 OCLN OCRL OFD1 OPHN1 ORC1 ORC4 ORC6 OTC OTX2 PACS1 PAFAH1B1 PAH PAK3 PAM16 PANK2 PAX1 PAX6 PAX8 PC PCCA PCCB PCDH19 PCNA PCNT PDE4D PDE6D PDHA1 PDHB PDHX PDP1 PDSS1 PDSS2 PEPD PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGAP2 PGAP3 PGK1 PGM3 PHC1 PHF6 PHF8 PHGDH PIGA PIGN PIGO PIGV PIGW PIK3CA PIK3R2 PLA2G6 PLCB1 PLK4 PLP1 PMM2 PNKP PNP PNPO PNPT1 POC1A POGZ POLG POLG2 POLR3A POLR3B POMGNT1 POMT1 POMT2 PORCN PPM1D PPOX PPP2R1A PPP2R5D PPT1 PQBP1 PRKDC PRKRA PRODH PRPS1 PRSS12 PSAP PSAT1 PSMB8 PSPH PTCH1 PTCHD1 PTDSS1 PTEN PTF1A PTPN11 PTS PUF60 PURA PUS1 PYCR1 PYCR2 QARS QDPR QRICH1 RAB18 RAB23 RAB27A RAB39B RAB3GAP1 RAB3GAP2 RAD21 RAD50 RAF1 RAI1 RANBP2 RARB RARS RARS2 RBBP8 RBM10 RBM28 RBPJ RDH11 RELN RFT1 RIN2 RIT1 RMND1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF125 RNF135 RNF168 RNU4ATAC ROGDI RPGRIP1L RPIA RPS19 RPS6KA3 RRM2B RTEL1 RTTN SACS SALL1 SARS2 SASS6 SATB2 SBF1 SC5DL SCN1A SCN2A SCN8A SCO1 SCO2 SDCCAG8 SDHA SDHAF1 SEMA3E SEPSECS SERAC1 SET SETBP1 SETD5 SFXN4 SGK196 SGSH SH3PXD2B SHANK2 SHANK3 SHH SHOC2 SHROOM4 SIK1 SIL1 SIX3 SKI SLC12A5 SLC12A6 SLC13A5 SLC16A1 SLC16A2 SLC17A5 SLC19A3 SLC20A2 SLC25A1 SLC25A12 SLC25A15 SLC25A19 SLC25A20 SLC25A22 SLC25A3 SLC2A1 SLC33A1 SLC35A2 SLC35A3 SLC35C1 SLC46A1 SLC4A4 SLC6A17 SLC6A19 SLC6A3 SLC6A8 SLC7A7 SLC9A1 SLC9A6 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCE1 SMC1A SMC3 SMOC1 SMPD1 SMS SNAP29 SNIP1 SNX14 SOBP SOS1 SOX10 SOX11 SOX2 SOX3 SPAST SPECC1L SPG11 SPG20 SPG21 SPR SPRED1 SPTAN1 SPTBN2 SRCAP SRD5A3 SRPX2 SSR4 ST3GAL3 ST3GAL5 STAMBP STIL STRA6 STRADA STS STT3A STT3B STUB1 STX11 STX1B STXBP1 SUCLA2 SUCLG1 SUMF1 SUOX SURF1 SYN1 SYNGAP1 SYP SYT14 SZT2 TACO1 TAF1 TAF2 TARS2 TAT TBC1D20 TBC1D24 TBC1D7 TBCE TBX1 TCF12 TCF20 TCF4 TCN2 TCTN1 TCTN2 TCTN3 TECPR2 TECR TERT TFAP2A TGIF1 THOC2 THRB TIMM8A TINF2 TMCO1 TMEM138 TMEM165 TMEM216 TMEM231 TMEM237 TMEM240 TMEM5 TMEM67 TMEM70 TPK1 TPP1 TRAPPC11 TRAPPC9 TREX1 TRIM32 TRMT10A TRNT1 TSC1 TSC2 TSEN2 TSEN34 TSEN54 TSFM TSPAN7 TTC19 TTC8 TTI2 TUBA1A TUBA8 TUBB TUBB2A TUBB2B TUBB3 TUBB4A TUBG1 TUBGCP4 TUBGCP6 TUFM TUSC3 TWIST1 UBE2A UBE3A UBE3B UBR1 UCHL1 UMPS UPB1 UPF3B UQCRC2 UQCRQ UROC1 USP9X VARS2 VAX1 VLDLR VPS13B VPS37A VPS53 VRK1 WDPCP WDR45 WDR62 WDR73 WFS1 WWOX XPA XPNPEP3 XRCC4 XYLT1 YAP1 ZBTB16 ZBTB18 ZBTB20 ZDHHC15 ZDHHC9 ZEB2 ZFYVE26 ZIC1 ZIC2 ZIC3 ZMYND11 ZNF238 ZNF335 ZNF41 ZNF423 ZNF592 ZNF674 ZNF711 ZNF81 ZSWIM6