SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT00001721

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Clinical and Basic Investigations Into Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder (autosomal recessive) caused by an abnormality in the production of cholesterol. The disorder can occur in both a "mild" or "severe" form. SLOS is associated with multiple birth defects and mental retardation. Some of the birth defects include; abnormal facial features, poor muscle tone, poor growth, shortened life span, and abnormalities of the heart, lungs, brain, gastrointestinal tract, limbs, genitalia, and kidneys. There is no known cure for SLOS but recently patients have been treated with increased amounts of cholesterol in their diet. The cholesterol in a persons diet is unable to correct the abnormalities in the patient's organs, but researchers hope it will improve growth failure and mental retardation. This study was developed to answer questions about the causes and complications of SLOS, as well as the effectiveness of cholesterol treatment. The study will enroll patients diagnosed with SLOS, and their mothers. The objectives of the study will be to address the following questions: 1. What is the prognosis / natural history of the demyelination in the nervous system of patients with SLOS? 2. Do patients with SLOS have other problems concerning the function of their endocrine systems? 3. What are the genetic make-ups of patients with SLOS? 4. Can further studies of cholesterol metabolism and genetic testing, using SLOS fibroblasts, increase the understanding of SLOS?

NCT00001721 Abnormalities Inborn Errors of Metabolism Mental Retardation Muscle Hypotonia Smith Lemli Opitz Syndrome
MeSH: Syndrome Intellectual Disability Metabolism, Inborn Errors Cleft Palate Hypertelorism Hypospadias Genetic Diseases, X-Linked Smith-Lemli-Opitz Syndrome Muscle Hypotonia
HPO: Cleft palate Hypertelorism Intellectual disability Intellectual disability, profound Muscle flaccidity Muscular hypotonia Neonatal hypotonia


Primary Outcomes

Description: analyzing multiple tissues for cholesterol precursors and secondary analyses that correlate with disease severity

Measure: biochemical biomarkers

Time: at every visit

Time Perspective: Prospective

Cohort


There is one SNP

SNPs


1 R404C

One SLOS mutant allele (R404C) appears to be present in individuals of French Canadian and Creole heritage. --- R404C ---



HPO Nodes


HPO:
Cleft palate
Genes 457
MKKS PIGN TSR2 TMEM67 RPL26 RPL27 ASXL1 B4GALT7 RPL35A DGCR6 SF3B4 AMER1 BRIP1 ERCC4 ERCC5 PGAP3 PDE6D ESS2 ZMPSTE24 CENPF SCARF2 ORC6 USP9X RBM10 SMC1A RPS7 GDF6 TMEM216 ACTB RPS10 RPS15A PEX7 ACTG2 RPS17 RPS19 KLHL41 RPS23 RPS24 RPS26 RPS27 RXYLT1 WNT4 EYA1 RPS28 RPS29 RREB1 ARID1A CHN1 SLC10A7 TRIP13 KCNK9 CHRNA1 MEIS2 PGM1 HNRNPK CHRND TBC1D24 CHRNG HIRA RNU4ATAC TWIST1 CDC45 MEOX1 EFTUD2 FANCA HOXA2 FANCC FANCD2 GREB1L FANCE SEMA3A SLC2A10 FANCB FANCF COLEC11 FANCG UBB ARID1B MBTPS2 COG1 HOXD13 ARHGAP31 FKTN YAP1 SUMO1 HS6ST1 RECQL4 MID1 UFD1 GPC4 WDR35 FGD1 CC2D2A KMT2A FGF8 FGF9 ECEL1 FGFR1 PLCB4 FGFR3 FGFR2 DGCR8 FLRT3 MAD2L2 FTO TMCO1 POMK GMPPB KDM6A NIPBL SEC23A CHST3 FOXC2 COL2A1 FOXE1 ALX3 COL4A1 POMT2 PROK2 FLII HSPG2 FLNA FLNB PIGL PSAT1 COL9A1 FRAS1 COL9A2 COL9A3 PRRX1 COL11A1 COL11A2 TBX4 CCDC22 DEAF1 DONSON POLR1A COMT OFD1 TAPT1 FKRP WHCR NSD2 HYAL1 NELFA INPP5E WNT3 WNT5A WNT7A B3GALNT2 CEP290 POLR1C TUBB ITGA8 SHH POMGNT1 CHSY1 PORCN POU1F1 ICK CHD7 ZSWIM6 COLEC10 POMT1 TMEM107 XRCC2 SIX1 SIX3 FANCM PIGV GDF3 CCDC141 SH2B1 ARCN1 CRKL STAMBP ZIC2 EPG5 MSX1 MSX2 IGBP1 C2CD3 PIEZO2 PPP3CA NSMF KANSL1 SEC24C UBE2T G6PC3 ARVCF WDR11 CTCF FEZF1 TP63 DLL3 CEP41 PTCH2 ANKRD11 B9D1 SMARCA4 SMARCB1 SMARCC2 SIX5 SMARCE1 CTBP1 SMS MESP2 SELENOI MAPK1 CTNND1 TBR1 GRHL3 SUFU MAP2K1 IL17RD SNRPB MAP2K2 CEP57 FZD2 MCTP2 STAG2 SLX4 MUSK MEGF10 RAI1 PROP1 SEMA3E SON SOX2 SOX3 SOX9 SOX10 SOX11 TCTN3 MYH3 ATP6V1B2 KIF1BP INTU MASP1 DDX59 AHI1 ATR CHST14 TMEM237 EARS2 MYOD1 EIF4A3 RIPPLY2 SEPTIN9 INPPL1 IQSEC2 STAC3 KIAA0586 GAS1 HDAC8 PTDSS1 GATA1 CPLX1 GATA3 DAG1 FGFRL1 NFASC NBN IRF6 PLXND1 COL25A1 PHF8 SMOC1 DCC NEB PTCH1 BCOR BCR ADA2 NSUN2 ZEB2 PHGDH HESX1 B3GAT3 FGF17 DDX3X STAT3 MKS1 KIAA0753 SLC35D1 XYLT1 GJA1 BMP4 NEK1 FAM20C IMPAD1 GJB2 ZNF469 ANOS1 PTPN11 KISS1R TXNL4A CEP120 GPC3 BRCA1 BRAF BRCA2 PROKR2 KLHL7 WASHC5 FGF20 KCNH1 KCNJ2 GLI2 GLI3 PGAP2 DHCR7 DHCR24 HES7 NECTIN1 BUB1 ARNT2 DHODH CYP26C1 BUB1B PEX2 MYMK PEX5 HYLS1 MAFB KIAA0556 TAC3 RBM8A DLX4 GNAI3 CDT1 TACR3 BMPER AMMECR1 GNB1 TMEM231 FOXH1 CPLANE1 MAP3K7 MAPRE2 KISS1 NODAL GNRH1 GNRHR MED12 PIGO TBX1 NOTCH2 CDON FKBP14 GP1BB RAD21 TBX2 TBX6 RAD51 TBX22 RAD51C TBX15 NPHP1 KRAS RPGRIP1 DGCR2 VAX1 RAP1A SATB2 RAP1B B3GLCT RAPSN RPGRIP1L LHX4 NEDD4L B4GAT1 NUP107 RB1 TCOF1 DYNC2H1 SLC26A2 SMCHD1 DOK7 DUSP6 KAT6A DVL1 NUP88 DVL3 B3GALT6 CRPPA FANCL RIPK4 TDGF1 SPECC1L DPF2 LBR RET RUNX2 REV3L DLL1 PRDM5 PQBP1 TFAP2A GMNN JMJD1C WDPCP PALB2 EDN1 LETM1 LFNG EDNRA RFWD3 POLR3A KIF7 CEP55 ESCO2 TGFB3 ORC1 TGFBR1 ORC4 TGFBR2 B9D2 POLR1D TGIF1 LIG4 KMT2D OTX2 EFNB1 ALX1 POMGNT2 LMNA SMC3 SETD5 LMX1B FANCI EIF2S3 ARID2 SPRY4 TGDS MED25 HAAO TRPV4 PAX3 RPL35 CDC6 BUB3 SLC25A19 KAT6B CDH1 CSPP1 RPL5 CDH11 CD96 DISP1 RPL11 SMAD3 SMAD4 RPL15 TCTN2 RPL18 LARGE1
Hypertelorism
Genes 562
TPM2 TPM3 PIGN TMEM67 ASXL1 CTU2 SLC29A3 ERCC2 B4GALT7 RPL35A AMER1 ERCC3 BRIP1 LZTR1 ERCC4 PDE4D IRX5 PGAP3 PDE6D ERF ZMPSTE24 KREMEN1 CENPF LEMD3 MAT2A RBM10 SMC1A ACOX1 RPS6KA3 APC2 RPS7 ACTA1 ACTA2 TMEM216 ACTB PEPD BLNK PEX1 PEX6 ACTG1 DNAJC21 LAGE3 RPS19 CHD3 CHD4 KLHL41 EXT2 EXTL3 VSX1 RRAS ACY1 RREB1 EZH2 TRIP12 TRIP4 CHRNA1 MEF2C ALX4 IFT43 GATAD2B CHRNA7 HNRNPH2 RYR1 CHRND HNRNPU TBC1D24 CHRNG WAC HIRA RNU4ATAC TWIST1 SNAP29 FANCA FANCC FANCD2 GREB1L FANCE ADK SHROOM4 SLC2A10 BPTF FANCB FANCF COLEC11 FANCG ARID1B FBN1 PIGA NALCN COG1 PIK3CA STRADA AGA PIK3R1 PIK3R2 HS6ST1 JAG1 RECQL4 MID1 UFD1 A2ML1 HACE1 PITX2 GPC4 HRAS WDR35 KIAA1109 FGD1 GTF2H5 FGF3 CC2D2A ANTXR1 KMT2A ALG8 UMPS FGF8 AKT1 FGF10 FGFR1 FGFR3 FGFR2 MMP2 MAD2L2 TP53RK FH HSD17B4 TMCO1 DOCK6 ZBTB18 LTBP4 ALDH6A1 EIF2AK3 MOCS1 MOCS2 SEC23A DSE CNTN1 FOXC1 CHST3 COL1A1 FOXE3 PMM2 COL1A2 COL2A1 ALX3 COL3A1 PROK2 SLC25A24 COL5A1 FLI1 FLII HSPG2 FLNA FLNB PIGL PSAT1 EXOSC9 FRAS1 SET FBLN5 COL11A1 COL11A2 TBX4 CCDC22 OGT DEAF1 POLR1A ANK1 POC1A COMT OFD1 TAPT1 ADAMTS3 WHCR NSD2 NELFA WNT5A COL27A1 PEX3 EFEMP2 CEP290 POLR1C TUBB APC ITGA8 COX7B POR CHSY1 FBXO11 CHD7 SIN3A ZSWIM6 COLEC10 TMEM107 SIM1 OSGEP XRCC2 FANCM SKI PIGV SKIV2L YWHAE CDK10 SH2B1 STAMBP ZIC1 ZIC2 ZIC3 EPG5 PPP1CB CASK NBAS PACS1 PPP2CA PPP2R1A SETD2 VAC14 PIEZO2 BCL11B PPP2R5D PPP3CA NSMF SPINT2 FAM111A SEC24C COX1 COX2 UBE2T COX3 ARVCF KLF13 WDR11 MTOR CDK13 CSNK2A1 IGHM TTC37 ND1 SETBP1 ND4 MRPS14 ND5 ND6 DCHS1 NUP133 PTCH2 PTRH2 ANKRD11 AUTS2 B9D1 MPLKIP PRKAR1A KBTBD13 FLCN NKX2-5 FOXP1 TRNF CTBP1 SMO SMS TRNH FUCA1 IGLL1 TRNL1 PRKG1 NGLY1 SLC45A1 CTNND1 TBR1 TRNQ CTNND2 TRNS1 TRNS2 TRNW SUFU MAP2K1 ERMARD MAP2K2 FZD2 MCTP2 TRIM37 SIX2 SLX4 MUSK AFF4 RAI1 SEMA3E SOS1 PHACTR1 SOS2 IL11RA SOX9 ATP6V1A TCTN3 MYH3 ATP6V1B2 KIF1BP INTU MASP1 ATP6V1E1 ZMYND11 MYH11 EED DDX59 EMC1 GPAA1 MYLK WDR4 ATRX CHST14 TMEM237 AVP TMEM94 MYOD1 INPPL1 IQSEC2 RNF113A KIAA0586 INSR HDAC8 PTDSS1 CPLX1 NKX3-2 GATA6 GBA SPART FGFRL1 NFASC NKX2-6 QRICH1 PSMD12 ITGA3 NEB PTCH1 C12ORF57 PTEN NSUN2 CCNK DPM1 AHDC1 ZEB2 ZBTB24 PTH1R PHGDH FREM1 B3GAT3 FGF17 STAT3 MKS1 BGN KIAA0753 RUSC2 XYLT2 GJA1 BMP2 FREM2 SEC24D FAM20C BMPR1A ANOS1 PTPN11 GK KISS1R TXNL4A NF1 CEP120 GPC3 BRCA1 GLB1 BRAF BRCA2 PROKR2 KLHL7 FIG4 WASHC5 FGF20 CCDC47 KCNH1 GLE1 KCNJ2 NFIX GLI3 DHCR7 BRPF1 MYPN BUB1B ABCD4 PEX2 PEX5 SMG9 PYCR1 ALDH18A1 PACS2 KIAA0556 CACNA1G TAC3 DLX4 TACR3 TAF1 BMPER HERC1 CAMTA1 TMEM231 CPLANE1 MAP3K7 MAPRE2 KISS1 GNRH1 GNRHR PHIP MED12 TRAPPC9 PIGO TBX1 ALG1 NOTCH2 NOTCH3 TBCD TBCE KNL1 GP1BB DNMT3B TBX2 RAD51 RAD51C TBX15 KRAS SLC12A6 MARS2 RAF1 RPGRIP1 DPH1 AKT3 FAT4 TCF3 SOST B3GLCT RAPSN TCF12 RPGRIP1L NRAS SRD5A3 RASA2 NUP107 USB1 GNE RB1 TCOF1 EBF3 SLC26A2 CAMK2A SMCHD1 DOK7 UBE3B DUSP6 ROR2 DDR2 TPRKB DVL1 NUP88 DVL3 NSD1 LMBR1 ABCC9 TWIST2 SEMA5A SALL4 FANCL RIPK4 SPECC1L DPF2 LBR RET SIK3 RUNX2 MED13L CBL SHOC2 TBL1XR1 NXN CIT TFAP2A ANKH TFAP2B DICER1 JMJD1C WDPCP PALB2 LETM1 PDHX RSPRY1 RFWD3 POLR3A KIF7 ADGRG6 CEP55 CCND2 ESCO2 RIT1 TTC7A GRIP1 TGFB2 TGFB3 IL1RAPL1 TGFBR1 RMRP TGFBR2 B9D2 POLR1D MFAP5 LIG4 LRPPRC GTF2E2 AP4S1 SH3PXD2B EFNB1 THRA HMGA2 ALX1 LMNA MEGF8 CDCA7 CCBE1 LOX FANCI ASXL3 ALG9 PAFAH1B1 SPRY4 TGDS RLIM MED25 LRP2 EHMT1 FIBP LRP4 LRRC8A LRP5 SPRED1 CD79A CD79B WDR73 ASXL2 PAX3 ELN SUZ12 HBA1 HBA2 KAT6B CDC42 CDH1 CSPP1 RPL5 CDH11 MAN1B1 SMAD3 SMAD4 ATP6V0A2 TCTN2 ALG13 HELLS MAF
Intellectual disability
Genes 1544
MKKS MAG AARS MAK DGCR6 AMER1 ABCA4 ESS2 MAN2B1 MANBA MAOA ACAT1 DNAJC19 MARS USP9X MAT1A KDM5C ACO2 SMC1A ACOX1 ACP5 ACTA1 ACTA2 ACTB SLC6A19 MC2R SCYL1 NAA10 SAMD12 ACTG1 LAGE3 BCL11A ACVR1 ARID1A COLQ ADAR MECP2 ARSI MEF2C BRWD3 GATAD2B MEIS2 ACOX2 TBC1D24 SLC12A5 CDC45 SHROOM4 TTC8 PTCHD1 ARID1B ADRA2B MGAT2 KIDINS220 NLGN4X ADSL MGP COG6 ARHGAP31 AGA HECW2 AGL JAG1 PCDH19 AGTR2 HACE1 ARL13B AHCY AHR AHSG CC2D2A KMT2A PLA2G6 AKT1 ALDH3A2 ALDOA DOCK6 ALDOB KCNT1 MOCS1 ALOX12B GNPAT WDR48 DUOXA2 ALX3 CUL4B DIP2B BIN1 AMT CCDC22 OGT ANK1 ANK3 OFD1 PRSS12 PPM1D FLVCR1 IYD KCNAB2 APC IKBKG KIAA1549 RNF213 ZSWIM6 APP FANCM AP3B1 AQP2 GBA2 SLC7A14 CDK10 ADAM22 ARCN1 EPG5 CASK MTFMT PRKRA ARG1 ARHGDIA SETD2 ARL3 ARSA STS ATP6 UBE2T ARVCF MTHFD1 ASAH1 ASCL1 CDK13 TP63 ASL JRK ASPA ASS1 DCHS1 PTCH2 ANKRD11 MTR FLCN MTRR TRNE ALDH4A1 ATIC TRNL1 TRNL2 RERE TRNN ATP1A2 ATP1A3 TRNS1 SLC4A4 ATP2A2 MMUT H19 ALDH7A1 MVK LYRM7 ATP5F1E MYCN UBR1 ATP6V1A MYH3 ATP6V1B2 ATP6V1E1 MYH7 EED ATP6AP1 MYL2 ATP7A ATP7B GPAA1 ATR ATRX CRADD KIF1A MYO5A MYO7A MYO9A AVPR2 GJB4 NEXMIF STAC3 NAGA NAGLU BBS1 BBS2 BBS4 MPDZ FGFRL1 NBN BCKDHA BCKDHB NDP UROC1 NDUFA2 NDUFA4 PEX11B NDUFA9 NDUFA10 SUCLG1 SUCLA2 BCR BCS1L NDUFB8 NDUFS1 NDUFS2 NDUFS3 BDNF NDUFV1 HESX1 NDUFS4 NDUFS8 NDUFV2 SYNGAP1 BLM PROM1 LDHD NEK2 BMPR1A NEU1 NF1 BRCA1 TMTC3 BRAF BRCA2 SYNJ1 ST3GAL5 NFIA NFE2L2 NFIX BUB1 BUB1B SCAPER NGF MYMK AP1S2 NHS CACNA1H CACNA1G HERC2 HERC1 FOXH1 PHOX2B BRAT1 USP27X NODAL MYRF NONO KYNU NOTCH1 CA2 CA4 PNP CA8 NPC1 NPHP1 CACNA1A SFXN4 CACNA1C CACNA1D NRAS NRL NRTN PRICKLE1 CAMK2A CAMK2B HCN1 TMPRSS6 NTRK1 NTRK2 ROR2 BAZ1B CRPPA SEMA5A RIPK4 OCRL SYT2 CAV1 SLC7A7 GPR88 CHAMP1 CBS OPA1 OPHN1 STT3B ORC1 ORC4 USP8 OTC KLLN OTX2 SMC3 PRPF4 PRPF3 AIFM1 NANS SCARB2 PAFAH1B1 ENTPD1 PRDX1 PAH CTDP1 SLC6A5 TREM2 PAK1 FIBP PAK3 PARN PAX1 PAX2 PAX3 PAX6 AP4M1 ARHGEF2 CDC6 BUB3 PC CDC42 PCCA PCCB HACD1 CDH11 CDH15 PCNT CDK6 LARGE1 CHMP1A TMEM67 PCYT1A LRAT PDE4D PDE6A PDE6D CRLF1 PDE6G CENPE PDE6B PDHA1 SLC26A4 COPB2 GLYCTK PEPD PEX1 PEX6 PEX7 DPM3 PEX10 ADGRG1 PEX12 CHAT CHD1 CHD2 CHD4 CHKB TRIP13 TRIP12 LYST ZNHIT3 PGK1 CHRNA4 CHRNA7 NLRC4 PGM3 RNU4ATAC SNAP29 EFTUD2 ERCC8 KMT2C COLEC11 PHYH LONP1 AP1S1 PLAA CLCN4 PIGC NRXN1 CLCNKA CLCNKB CLIC2 PIK3CA PIK3R2 CLN3 CLN5 RAB3GAP2 RECQL4 CLTC PITX3 ASPM FSCN2 GPSM2 PLAGL1 NTN1 DGCR8 MED23 PYCR2 PRMT7 TMCO1 GMPPB GMPPA CNGB1 PLP1 CNGA1 EIF2AK3 NIPBL ARHGEF6 PMM2 COL2A1 COL3A1 COL4A1 POMT2 SLC25A24 NDUFB11 PIGL MAGEL2 COL13A1 DONSON NDUFAF5 COMT ADAMTS3 MBOAT7 DLL4 PMPCB FKRP PODXL POLA1 FA2H RRM2B TECR POLG B3GALNT2 GNPTAB LZTFL1 RTTN NDUFAF3 COX6B1 POLR1C COX7B COX8A POR COX10 POU1F1 DUOX2 COX15 POU3F4 SAMHD1 SIN3A PPARG CPS1 GABBR2 GTF2IRD1 CTSA CREBBP PREPL SH2B1 MMACHC CRKL PPM1B NECAP1 PPP1CB THOC6 CRX UGT1A1 TMEM106B PPP2R1A GTPBP2 C2CD3 PPP2R5D PPP3CA KANSL1 SEC24C PPT1 ZNF592 PDP1 CSNK2A1 NUS1 C12ORF65 SETBP1 IQCB1 SLC6A20 CEP135 CNTNAP2 CEP41 CSTB AUTS2 MPLKIP PRKAR1A PIGW NKX2-5 SLC13A5 CTBP1 DEPDC5 CTH CAVIN1 CTNNA2 MAPK1 CTNNB1 SLC45A1 CTNND2 PUM1 MAPK10 MAP2K1 CTSD MAP2K2 CEP57 DNAJC3 RUBCN CUX1 PRODH PROP1 SEMA3E PRPS1 CEP104 COX20 PRPF31 TCTN3 IFT140 KIF1BP MASP1 TRIT1 CNNM2 DDX59 AHI1 NDUFS7 DYM ZBTB20 PUS3 FRMPD4 HDAC4 PSEN1 PSEN2 NDE1 PET100 IFT172 CYP24A1 CYP27A1 DHX38 KIAA0586 PTDSS1 PSMB8 DAG1 CC2D1A DARS QRICH1 PSMD12 PIGG PSPH DBT DCC PTCH1 PTEN BCOR METTL23 DNAJC6 NSUN2 DCX DDB2 ZEB2 ZBTB24 PHGDH SLC36A2 DDX3X MKS1 KIAA0753 TBC1D20 RUSC2 NSDHL DDX11 FREM2 PTPN11 CEP120 RNF125 PROKR2 TINF2 CANT1 SACS TECPR2 WASHC5 PTS USH1G AP5Z1 DHCR7 PURA DHCR24 TMEM70 NECTIN1 ARNT2 NCAPD2 CYB5R3 PEX2 PEX5 PYCR1 DKC1 KIF14 ALDH18A1 DLAT DLG3 RBM8A RAB39B DMD RFT1 SLC52A2 AMMECR1 SARDH TMEM231 DNM1 DMPK DNA2 QDPR TSEN15 PHIP MED12 TRAPPC9 TCTN1 DYNC1H1 WDR62 RAC1 CDON IMPG2 DNMT3A DNMT3B RAD21 RAD51 RAD51C RNASEH2B DPAGT1 SLC12A6 RAF1 DGCR2 DPH1 DPP6 SCO2 DPYD EFL1 DPYS RANBP2 AKT3 FAT4 NR2E3 SOST EVC2 B3GLCT ROGDI RARB HDAC6 SRD5A3 RARS MCPH1 GNE RB1 NDUFAF2 SOBP RBBP8 RBP3 DVL1 DVL3 DYRK1A AGGF1 RDH12 PRPH2 ABCC9 FANCL DPF2 ANO10 HUWE1 RET RBM28 PRRT2 RFC2 ECE1 GPC6 TYMP USH1C PQBP1 ECHS1 COL4A3BP TBL1XR1 RGR GMNN WDPCP PALB2 MSTO1 NARS2 EDN3 EDNRB ATL1 PHC1 RFWD3 RHO YARS2 KIF7 BBS10 EEF1A2 RAD50 ESCO2 RIT1 RLBP1 NDUFA13 SLC17A5 CCDC88C RMRP LINS1 MLXIPL SEMA3D DNAL4 EYS SEPSECS VPS13D BCAP31 EFNB1 ABHD5 EGF MEGF8 CDCA7 KMT5B SETD5 ZDHHC9 ATAD3A MRPS2 BBS7 AASS FBXO31 ATP6AP2 SBDS FANCI EIF2S3 IER3IP1 ZNF408 ALG9 SLC25A15 SAR1B SYT14 RLIM CEP83 EHMT1 ROBO1 ROM1 CAMKMT RORA ALOXE3 YY1AP1 ELP2 BSCL2 RP9 ASXL2 RP1 ELN RP2 RPGR EML1 C8ORF37 TANGO2 TOPORS RPE65 CSPP1 VPS53 TBL2 CWF19L1 CD96 EP300 CRBN VPS13B EPB41L1 RPL10 TCTN2 ALG13 NIN GPHN TACO1 UBA5 CLN8 ZC3H14 SLC29A3 ERCC2 ERCC3 BRIP1 ERCC4 ERCC5 ERCC6 PIGP ERF STAG1 ACER3 CWC27 SLC35C1 CDHR1 SPEG TRAIP RPS6KA3 BCKDK TBC1D7 APC2 TMEM216 ZFP57 WDR81 EVC L2HGDH DHDDS RPS19 EXT1 EXT2 RPS23 RXYLT1 EXTL3 EYA1 PCDH12 RREB1 EZH2 KCNK9 ABCA7 WARS2 PHF21A RYR1 FANCA FANCC FANCD2 CACNG2 FANCE ARL6 ACSL4 BPTF FANCB DACT1 FANCF TUBB3 FANCG TUBB4A SAG FBN1 FBP1 SALL1 SARS ATRIP MBTPS2 SBF1 MSMO1 SC5D FKTN FAM161A YAP1 STRADA SCN1A PGAP1 RNASEH2C SCN3A GORAB SCN4A SCN8A GPC4 DCAF17 KIAA1109 FGD1 PRCD SCO1 ANTXR1 FGF8 FGF12 NOP10 FGF14 FGFR1 TOMM40 FGFR3 FGFR2 MAD2L2 SLITRK6 MERTK FAR1 FH PIBF1 COG5 POMK DHTKD1 ZBTB18 SLC9A6 FOXG1 SEC23B SDHA SDHB SDHC SDHD FOXI1 FOXE3 FOXE1 FLI1 FLII FLNA FLNB SEMA3C FRAS1 SET FOXRED1 CIB2 EDC3 DEAF1 NAA15 FMR1 AFF2 CISD2 RNASEH2A NACC1 PUF60 FOLR1 IFT74 SGSH FOS UFC1 TTI2 CEP290 AGPAT2 RNF135 ARX SLC35A1 TUBB BBIP1 ARFGEF2 TMEM138 SHH PHF6 NTNG1 POMGNT1 FBXO11 OPA3 NPC2 SPG11 CNKSR2 ARMC9 CHD7 FASTKD2 ST3GAL3 COLEC10 POMT1 MAB21L2 TMEM107 TXNRD2 STIL OSGEP SIX3 SKI PRPF8 PIGV NHP2 WDR26 SLC1A1 SLC1A2 SLC1A4 COA8 TDP2 UFM1 SLC2A1 LARP7 CYFIP2 COG8 SLC3A1 TRAK1 DHX30 CEP63 SLC5A5 SLC6A1 SLC6A8 PACS1 FRMD4A LIPT1 RAB3GAP1 RAB18 PIEZO2 POLR3B CCDC88A SLC12A1 MIR17HG KLF13 WDR11 SLC16A1 SLC16A2 CTCF DYNC2LI1 TRIM32 MTOR ELMO2 SLC18A3 SLC25A1 OTUD6B FRG1 HHAT KLHL15 GNB5 XPNPEP3 EBP DLL3 CXORF56 SNAI2 TIMM50 NT5C2 PTRH2 SMARCA2 B9D1 PUS1 SMARCA4 SMARCB1 CNPY3 SMARCC2 CDK5RAP2 SMARCE1 FOXP1 ZFR FTL SMO NDUFAF6 UQCRQ SMPD1 SMS MESP2 CEP152 FUCA1 SNAP25 WDFY3 CERS1 TBR1 AP4B1 TBC1D23 OCLN MBD5 FUT8 KDSR SUFU ERMARD SNRPB FZD2 SPATA5 PRDM16 BBS12 YME1L1 SNRNP200 PLK4 SNRPN STAG2 SLX4 UNC80 AFF4 RAI1 MGME1 GABRA1 SON KIF1C SORL1 MYT1L GABRB2 SOX2 GABRB3 SOX3 RAB23 GABRD TNIK SPATA7 SOX5 GABRG2 SOX10 CERKL SOX11 GAD1 KDM5B VPS11 ZMYND11 UPB1 GALE B4GALNT1 EOGT NKX6-2 EMC1 DIS3L2 ADAT3 SPAST CENPJ WWOX GALT GAMT CHST14 RTEL1 SPR ATP8A2 KIZ ZNF423 INPP5K GJB6 SPTAN1 SDCCAG8 SPTBN2 IQSEC2 GAS1 HDAC8 ASH1L GATA1 CPLX1 MAP3K20 GATA4 GATA6 GATM SPART GBE1 CDH23 SRP54 TAB2 SRY SLC46A1 GCH1 GCK POGZ MCCC2 FTCD SSR4 TUBGCP4 GCSH GNPTG PHF8 SMOC1 PDE10A SRCAP TUBA8 C12ORF57 ZC4H2 COQ2 ANKLE2 GDI1 BBS9 GDNF AHDC1 CIC MMADHC STAR SLC39A8 GGT1 STAT3 SLC52A3 ELOVL4 GHR XYLT1 XYLT2 IFIH1 CDKL5 GJA1 GJA5 GJA8 GJB2 GJB3 KANK1 GK SRPX2 PNPLA6 STXBP1 GPC3 NDUFA12 GLB1 PMPCA KLHL7 REEP6 MLC1 GLDC GLI1 GLI2 GLI3 ABCC8 SURF1 PGAP2 RBMX GLRA1 RHOBTB2 SUMF1 GLRB HES7 GLUD1 AFG3L2 VAMP1 FAM126A ARHGEF9 SYP HYLS1 PACS2 IRF2BPL KIAA0556 TAC3 GNAO1 GNAQ TAF1 TAF2 GNAS SEMA4A DDHD2 STRA6 CAMTA1 GNB1 TAF6 CLP1 GPT2 TAF13 MAP3K7 MAPRE2 KCNQ1OT1 GNS PIGO TAT TBX1 CNTN2 TBCD TBCE GP1BB SPINK5 TLK2 GPI MARS2 IFT27 TCF4 NCAPD3 HNF1A HNF1B DMXL2 SATB2 CUX2 TCF12 RPGRIP1L WASHC4 NEDD4L B4GAT1 MID2 TCN2 TCOF1 SZT2 HGSNAT SLC19A3 NSD1 LMBR1 ARHGEF18 TWIST2 GRIA3 GRIA4 RTN4IP1 GRIK2 TDGF1 GRIN1 LMNB2 GRIN2A GRIN2B SPECC1L BBS5 GRIN2D MED13L GRM1 ADNP NCAPH TERT NXN CIT TFAP2A EXOSC2 TFAP2B NR2F1 SIL1 POLR3A GSS CRB1 KPTN TG GRIP1 IL1RAPL1 TGFBR1 AP4E1 TGFBR2 GPR161 TGIF1 MFSD2A TH WDR45 GTF2E2 AP4S1 SLC35A3 ERLIN2 GTF2I BRF1 POMGNT2 LINGO1 ATAD1 GUCA1B NKX2-1 TK2 GUSB TKT ASXL3 ETHE1 PPP1R15B MRAP GUCY2D TSPAN7 HIST1H1E CKAP2L HAAO PLPBP CYP2U1 WDR45B WDR73 ZFYVE26 SERAC1 HSD17B10 HADHA SUZ12 HADH SLC39A14 HBA1 HBA2 KAT6B NNT AGRN HCCS HCFC1 DISP1 MAN1B1 HTT CEP19 ATP6V0A2 COX14 HELLS RD3 TPM2 TPM3 PIGN TPO TREX1 ASXL1 ARL2BP PNKP HINT1 HIVEP2 PGAP3 TRH TRIO MICOS13 PDSS1 LEMD3 ORC6 GDF6 TRPS1 SLC5A7 DNAJC21 HMGB3 KCNE5 TSC1 TSC2 HMGCL NUP62 TSHB TSHR AGBL5 HNF4A HNMT TTN HNRNPA1 TUB HNRNPA2B1 ALX4 HNRNPH2 HNRNPK TULP1 HNRNPU HIRA TWIST1 SLC2A10 HEPACAM GUF1 ZDHHC15 UBE2A KCNQ5 UBE3A HPD UBTF HPRT1 FRRS1L UFD1 HRAS AIPL1 GTF2H5 DNAJC12 ZNF81 USH2A CLRN1 KDM6A D2HGDH VARS VCP HSPD1 KCTD7 HSPG2 NDST1 TRAPPC11 VLDLR BEST1 VRK1 ARV1 NMNAT1 CLIP2 WFS1 WHCR NSD2 NELFA INPP5E IARS WNT5A WT1 PORCN TWNK XPA XPC PLEKHG2 IDH3B XRCC2 XRCC4 IDS IDUA YY1 YWHAG SHANK3 ALG2 ZIC1 ZIC2 ZNF711 TUBGCP6 TRMT10A IGBP1 IGF1 BCL11B IGF1R IGF2 ZNF41 RBPJ FMN2 SELENOI TMEM240 ZNF513 ZBTB16 ZNF148 IMPA1 IMPDH1 ACD TMEM237 INS RIPPLY2 SLC6A17 RNF113A PDX1 KIF4A FTSJ1 TUBB2B PRPF6 UPF3B MCCC1 TGM6 ITGA7 ITGB6 STT3A ITPR1 BSND KCNA2 LMAN2L ALMS1 KCNB1 CLPB KCNC3 COQ8A TUBA1A PAX8 KCNH1 KCNJ1 KCNJ6 KCNJ8 KCNJ10 BRPF1 KCNJ11 TRAPPC6B KCNJ13 PCDH15 KCNMA1 KCNQ2 VWA3B CDT1 KIF5A CPLANE1 HYMAI KIT ALDH5A1 KIF11 KNL1 KRAS RPGRIP1 LCA5 C12ORF4 PNPLA2 LHX4 AIMP2 EBF3 KRT81 KRT83 KRT86 UBE3B TUSC3 L1CAM KAT6A LAMA2 LAMB1 LAMB2 B3GALT6 PCARE LAMP2 LHX3 LBR DLL1 THOC2 SHOC2 SELENON MCOLN1 JMJD1C LETM1 PDHX LFNG RSPRY1 NLRP3 ADAMTS10 LHX1 KY LIG4 LIMK1 KMT2D AAAS HMGA2 ALX1 LMNA LMNB1 IFT88 CCBE1 ARID2 AP3B2 LRP2 SASS6 LRP5 GAN DSG4 LTBP2 LAS1L SMAD4 MAF
Intellectual disability, profound
Genes 67
HSPD1 ELOVL4 POMT2 RNASEH2B SHROOM4 IFIH1 CDKL5 ATP6V1A TREX1 ASXL1 GUF1 ATP6V1E1 SEPSECS RAB18 CCDC88A PUS3 ERCC6 PIGP AIMP2 OFD1 ARV1 SYNJ1 NDE1 RNASEH2A CLIC2 FKTN FKRP UBTF PIK3R2 KCNJ6 IER3IP1 SPTAN1 PCDH19 RNASEH2C RNF113A BUB1B CNPY3 DPM3 POMGNT1 AP1S2 CRPPA WDR45B SAMHD1 SMS FGFR3 ATIC ST3GAL3 PIGG POMT1 STRA6 PCDH12 FH TUBA8 IDS OCLN ADAR SLC1A2 VPS53 MECP2 ZNHIT3 SLC9A6 VARS ADAM22 UNC80 SLC39A8 ATP6V0A2 LARGE1
Muscle flaccidity
Genes 14
PEX1 PEX6 CACNA1S LAMP2 INPP5K SIL1 UBE3B KCNE3 SCN4A KCNJ18 PLEC GABRA3 COL1A1 COL1A2
Muscular hypotonia
Genes 1359
GPHN MAG TACO1 UBA5 NAT8L AARS CTU2 ABAT GLRX5 ERCC1 ERCC2 ABCB7 DGCR6 AMER1 ERCC3 LZTR1 ERCC5 ERCC6 PIGP ESS2 ERF MAN2B1 MANBA ACACA ACADL ACADM STAG1 ACADS ACADSB ACADVL ACAT1 ACAT2 PYROXD1 DNAJC19 CCDC174 USP9X SLC35C1 RBM10 KDM5C ACO2 SPEG SMC1A ACOX1 ACP2 RPS6KA3 APC2 ACTA1 TMEM216 ACTB ETFA ETFB SLC6A19 ZFP57 ETFDH NAA10 WDR81 L2HGDH DHDDS LAGE3 ISCA2 RPS20 EXT1 KLHL41 EXT2 RPS23 RXYLT1 EXTL3 RRAS PCDH12 ACY1 RREB1 ARID1A EZH2 COLQ TIMMDC1 ADAR KCNK9 MECP2 ADCY5 ADCY6 WARS2 MEF2C BRWD3 GATAD2B RYR1 TBC1D24 WAC SEMA3A ADK ACSL4 BPTF TUBB3 TUBB4A ARID1B MGAT2 FBN1 KIDINS220 FBP1 ADSL MBTPS2 SC5D ATXN1 COG6 ATXN2 ARHGAP31 FKTN ATXN7 FDX2 STRADA AGA HECW2 SCN1A SCN1B PCDH19 SCN2A PGAP1 RNASEH2C SCN3A GORAB SCN4A HACE1 MIPEP ARL13B MITF SCN8A AHCY GPC4 SCN9A KIAA1109 MLH1 AHSG SCO1 CC2D2A KMT2A FGF8 PLA2G6 FGF12 ALAD FGFR1 FGFR3 PWAR1 TP53RK FAR1 FH SLC30A9 ALDH3A2 PIBF1 FHL1 TRMT5 COG5 DOCK6 POMK DHTKD1 ZBTB18 LTBP4 ALDH6A1 KCNT1 SLC9A6 FOXG1 SDHA SDHB SDHD ALPL GNPAT DUOXA2 MPI FOXE1 CUL4B TRAF7 MPV17 MPZ MRE11 FLII FLNA AMPD1 AMPD2 BIN1 SET AMT FOXRED1 CCDC22 DEAF1 FMR1 ANK3 NOP56 DCPS OFD1 OSTM1 SLC25A4 RNASEH2A NACC1 PUF60 PPM1D HIKESHI ACAD9 UFC1 KLHL40 IFT81 FLVCR1 PEX3 CEP290 CNTNAP1 ARX DOLK SLC35A1 IYD TUBB LARS KCNAB2 APC ARFGEF2 TMEM138 IKBKG TRMT1 ELP1 PHF6 POMGNT1 UQCC2 FBXO11 NPC2 CNKSR2 ARMC9 MSH2 CHD7 FASTKD2 ST3GAL3 ZSWIM6 POMT1 TMEM107 CCDC115 SIM1 OSGEP TARS2 SIX3 MORC2 SKI PIGV CCDC141 WDR26 SLC1A2 SLC1A3 SLC1A4 CDK10 AR COA8 TDP2 ADAM22 UFM1 PRX PEX26 CYFIP2 COG8 SLC3A1 STAMBP TRAK1 DHX30 EPG5 CASK FAN1 MTFMT SLC5A5 TPK1 SPTBN4 SLC6A3 SLC6A8 TRMU SLC6A9 NBAS PACS1 SETD2 LIPT1 VAC14 RAB3GAP1 ARL3 RAB18 PIGT MLH3 NDUFAF4 VIPAS39 PIEZO2 CCDC88A ARSA ACAD8 SLC25A12 ATP6 ATP8 FRA16E COX1 COX2 COX3 ARVCF KLF13 WDR11 UQCC3 SLC16A2 CTCF FEZF1 SLC34A1 FARS2 MTOR SLC18A2 SLC18A3 ASCL1 CDK13 SLC25A1 OTUD6B FLAD1 MTM1 ND1 ASNS ND2 SLC22A5 GNB5 ND3 EBP ND4 ASPA PPA2 ND5 ND6 SNAI2 TIMM50 DCHS1 NUP133 PTRH2 MTTP MTR B9D1 PUS1 SMARCA4 SMARCB1 AGK MAST1 MRPS34 FLCN MTRR SMARCC2 MPC1 TRNE SMARCE1 FOXP1 TRNF NDUFAF6 UQCRQ SMPD1 SMS TRNH FUCA1 TRNK ATIC TRNL1 NGLY1 RERE TRNN TBR1 TRNQ AP4B1 TBC1D23 ATP1A3 TRNS1 TRNS2 OCLN TRNT TRNV MBD5 FUT8 TRNW ZBTB11 STX11 SUFU ERMARD SPATA5 PRDM16 YME1L1 ATP2B3 LMBRD1 SNRPN STAG2 TRIM37 MUSK ATP5F1A MMUT MEGF10 UNC80 GAA KDM1A ALDH7A1 MVK RAI1 GABRA1 SON SOS1 PHACTR1 SOS2 GABRB1 LYRM7 GABRB2 SOX2 GABRB3 GABRD SNORD115-1 SPATA7 SOX5 GABRG2 SOX9 SOX10 UBR1 SOX11 MYF6 ATP6V1A ATP6V1B2 VPS11 ATP6V1E1 MYH7 GALC UPB1 EED GALE SPARC NKX6-2 MYL2 EMC1 ATP7A DIS3L2 ADAT3 GPAA1 WWOX GAMT WDR4 ATRX KIF1A MYO5A CHST14 SPR NEXMIF ATP8A2 TMEM165 ZNF423 INPP5K NADK2 SPTAN1 SPTBN2 IQSEC2 NAGA HDAC8 ASH1L GATA1 CPLX1 MAP3K20 GATA6 GBA PWRN1 SPART GBE1 SRP54 FGFRL1 NFASC SIK1 GCDH BCKDHA BCKDHB SLC46A1 GCH1 NDN GCK NDP NDUFA1 POGZ SLC25A26 NDUFA2 MCCC2 TNFRSF11A NDUFA4 PLXND1 NDUFA6 SSR4 GCSH PDE10A PEX11B TUBA8 NEB C12ORF57 NDUFA9 NDUFA10 SUCLG1 ZC4H2 SUCLA2 COQ2 NDUFB3 GDI1 BCS1L NDUFB8 NDUFB9 GDNF DPM1 AHDC1 GFER NDUFS1 NDUFS2 CIC MMADHC GFPT1 DPM2 NDUFS3 BDNF NDUFV1 NAGS HESX1 NDUFS4 SLC39A8 FGF17 NDUFS6 STAT3 NDUFS8 NDUFV2 B4GALT1 SYNGAP1 SLC52A3 STIM1 XYLT1 XYLT2 IFIH1 CDKL5 BMP1 FCSK BMP2 BMP4 NEK1 BMPR1A ZNF469 KANK1 NEU1 NEUROD2 DST KISS1R PNPLA6 STXBP1 GPC3 NDUFA12 TMTC3 BRAF SYNJ1 PMPCA ST3GAL5 SUOX NFIA GLDC GLE1 BTD SGPL1 NFIX ABCC8 SURF1 PGAP2 RHOBTB2 SUMF1 MCM3AP GLS MYPN SYNE2 EIF2B4 EIF2B3 BUB1 VAMP1 EIF2B2 BUB1B EIF2B5 FAM126A VPS13A GLUL PLCB1 SLC9A7 MYMK SMG9 HYLS1 GM2A AP1S2 SYT1 PACS2 SGCE IRF2BPL KIAA0556 CACNA1G GNAI3 TACR3 GNAO1 TAF1 BMPER SEMA4A DENND5A HERC2 STRA6 HERC1 MYO18B CAMTA1 GNB1 TAF6 GTPBP3 PHOX2B CLP1 GPT2 BRAT1 MAPRE2 NONO AP3D1 PIGO TBX1 ALG1 NOTCH3 AGTPBP1 TBCD TBCE GP1BB PNP CA8 NPC1 TLK2 NPHP1 BICD2 CACNA1A MARS2 RNU12 SFXN4 CACNA1C CACNA1E LIAS TCF4 HNF1A SATB2 SLC25A20 CAD VMA21 TRIM2 RPGRIP1L NRAS NEDD4L B4GAT1 HTRA2 SZT2 CAMK2A CAMK2B HCN1 SYNE1 MYO1H NTRK2 PCLO DDR2 GPX4 SLC19A3 NSD1 BAZ1B LMBR1 CRPPA SEMA5A GRIA4 CASR GRID2 GRIN1 GRIN2B OCRL SPECC1L GRIN2D MED13L GRM1 SLC7A7 NSMCE3 ADNP CBL PRDM5 CHAMP1 SERPINH1 OGDH TSEN2 OPA1 SIL1 OPHN1 POLR3A STT3B MLYCD CRB1 KPTN SIX6 TG TGFB1 MMAA TGFB3 AP4E1 TGFBR2 LMOD3 MSH6 ORAI1 MFSD2A TH GTF2E2 AP4S1 SLC35A3 OTX2 GTF2I THRA THRB POMGNT2 MTMR14 SMC3 NKX2-1 P4HB AIFM1 NANS TK2 GUSB TKT ASXL3 ETHE1 GUCY2D PAFAH1B1 PRDX1 HIST1H1E ERCC6L2 PAK1 CD59 CKAP2L MACF1 PLPBP WDR45B WDR73 SERAC1 HSD17B10 HADHA HADHB PAX6 HADH LNPK AP4M1 SLC39A14 ARHGEF2 HBA1 PBX1 BUB3 HBA2 POLG2 SLC25A19 TNNT1 KAT6B PC PCBD1 MMAB CDC42 PCCA PCCB TNXB SLC33A1 HCFC1 HACD1 HTT ATP6V0A2 COX14 RD3 LARGE1 CHMP1A TPI1 SLC25A46 HEXA PIGY TPM2 TPM3 CDKN1C PIGN TPO SDHAF1 TMEM67 USP18 PCYT1A LRAT TREX1 ASXL1 RAB11B PNKP B4GALT7 HIVEP2 PGAP3 PDE6D REPS1 TRHR MICOS13 AIMP1 PDHA1 LEMD3 PDHB CFL2 SLC26A4 GDF6 TRPS1 GLYCTK SLC5A7 HLCS PEX1 PEX6 PEX7 DNAJC21 PEX10 PEX12 PEX13 PEX14 RNF13 KCNE5 CHAT CHD1 CHD3 HMGCL CHD4 NUP62 TSHB TSHR CHKB HNF4A TRIP13 TRIP12 TTN TRIP4 ZNHIT3 CHRNA1 ELAC2 TUBB2A CHRNA7 CHRNB1 HNRNPH2 TUFM HNRNPK PGM3 TULP1 CHRND HNRNPU CHRNE HIRA RNU4ATAC SNAP29 PRUNE1 SLC25A3 SLC2A10 PHKB PNPT1 HEPACAM KMT2C PHKG2 ZDHHC15 PHYH LONP1 UBA1 AP1S1 PIGA CLCN4 KCNQ5 NRXN1 CLCNKA NALCN PIGH CLCNKB COG1 UBE3A HPD PIK3CA PIK3R2 HS6ST1 ALG14 HPRT1 FRRS1L RIN2 RAB3GAP2 UFD1 A2ML1 SLC35A2 CCDC78 CLTC NPAP1 RETREG1 PEX16 HRAS AIPL1 GTF2H5 DNAJC12 ALG8 RNF216 PLAGL1 PLCB4 ATXN10 DGCR8 FLRT3 MTO1 HSD17B4 PYCR2 PRMT7 TMCO1 TXN2 GMPPB GMPPA PLOD1 ALG6 PLP1 EIF2AK3 KDM6A NIPBL D2HGDH ALG12 COG4 VARS NAXE DSE PUS7 CNTN1 CHST3 COL1A1 PMM2 VDR COL1A2 COL2A1 PMP22 HSPD1 COL4A1 POMT2 PMS1 PROK2 SLC25A24 COL5A1 COL5A2 COL6A1 NDUFB11 COL6A2 NDST1 TRAPPC11 VLDLR COL6A3 PIGL EXOSC9 PMS2 VRK1 COL11A2 COL12A1 MAGEL2 TBX4 COL13A1 MYOT NDUFAF5 POC1A COMT ARV1 NMNAT1 ADAMTS2 CLIP2 MBOAT7 PMPCB FKRP WHCR NSD2 NELFA INPP5E IARS POLE RRM2B POLG ATCAY MPDU1 B3GALNT2 GNPTAB EFEMP2 NDUFAF3 COX6B1 COX8A COX10 POU1F1 DUOX2 COX15 TWNK SAMHD1 TMEM43 SIN3A PLEKHG2 SLC34A3 IDH2 CPS1 CPT1A CPT2 GABBR2 GTF2IRD1 IDUA LGI4 CRAT CREBBP YWHAE YWHAG PREPL SHANK3 SH2B1 TOE1 ALG2 MMACHC PPM1B NECAP1 NDUFA11 ZIC1 PPP1CB CRX UGT1A1 TMEM106B PPP2CA PPP2R1A GTPBP2 BCL11B PPP2R5D IGF2 PPP3CA NSMF KANSL1 KCNT2 SEC24C CYP2R1 PPT1 ZNF592 PRF1 PDP1 CSNK2A1 NUS1 C12ORF65 IQCB1 TBCK CNTNAP2 CEP41 MPLKIP KBTBD13 FMN2 NKX2-5 SLC13A5 PRKCG CTBP1 PNPLA8 PRKD1 CTNNA2 CTNS CTNNB1 SLC45A1 CTNND2 PUM1 MAP2K1 IL17RD GFM1 MAP2K2 CEP57 CUX1 PRNP PRODH PROP1 SEMA3E ATPAF2 PRPS1 MKRN3 CEP104 COX20 TCTN3 IFT140 IBA57 KIF1BP RELN TRIT1 AHI1 NDUFS7 ZBTB20 PUS3 ZNF148 PSAP IMPDH1 HDAC4 TMEM237 EARS2 TMEM94 PET100 INS INPPL1 CYP24A1 RNF113A CYP27B1 KIAA0586 LAMA1 TMEM199 PTDSS1 PDX1 DAG1 IPW DARS TUBB2B DBH UPF3B QRICH1 PSMD12 NHLRC2 PIGG MCCC1 ITGA3 DBT DCC ITGA7 PTCH1 PTEN BCOR WNK1 NSUN2 DCX DDC ITGB6 ZEB2 MRPS22 DDOST SNORD116-1 MFF B3GAT3 DDX3X STT3A MKS1 ITPA KIAA0753 FBXL4 ITPR1 TBC1D20 RUSC2 NSDHL DDX11 BSND SEC24D ANOS1 TRMT10C COA6 PTPN11 KCNA2 SARS2 CEP120 ANTXR2 RNF125 KCNB1 MOGS HIBCH PROKR2 CLPB VPS33B KCNC3 COQ8A TELO2 CANT1 TUBA1A TECPR2 FIG4 WASHC5 PAX8 CCDC47 KCNH1 PTS DGUOK DHCR7 C19ORF12 PURA KCNJ10 BRPF1 DHFR KCNJ11 TMEM70 TRAPPC6B KCNJ13 COQ9 PEX19 DIAPH1 KCNMA1 ABCD4 PEX2 PEX5 PYCR1 KIF14 ALDH18A1 DLAT KCNQ2 DLD KCNQ3 DLG3 RARS2 KIF5A DMD RFT1 SLC52A2 AMMECR1 SARDH RMND1 TMEM231 DNM1 DMPK CARS2 CPLANE1 DNA2 QARS QDPR HYMAI KIT ALDH5A1 TSEN15 PHIP MED12 TRAPPC9 TCTN1 DYNC1H1 RAC1 KIF11 DNM2 FKBP14 KIF22 DNMT3A RAD21 DOCK3 RNASEH2B KRAS DPAGT1 SLC12A6 RAF1 RPGRIP1 DGCR2 LCA5 SCO2 DPYD EFL1 C12ORF4 FAT4 PNPLA2 RAP1A PDSS2 RAP1B RAPSN RARB SRD5A3 RARS LHX4 RASA2 NUP107 GNE RB1 NDUFAF2 LYRM4 EBF3 SLC26A2 COG7 PIGS UBE3B DUSP6 TPRKB KAT6A ASCC1 EXOSC3 DYRK1A LAMA2 TOR1A FARSB LAMB1 RDH12 LAMB2 B3GALT6 DNM1L ALG11 MRPS16 GJC2 PAM16 LHX3 VARS2 DPF2 RET REV3L COLGALT1 PRRT2 RFC2 THOC2 ECHS1 SHOC2 SELENON COL4A3BP BOLA3 TBL1XR1 MCOLN1 JMJD1C EDN1 LETM1 MSTO1 NARS2 PDHX RSPRY1 EDN3 EDNRB TSFM YARS2 KIF7 PNPO MKRN3-AS1 EEF1A2 RIT1 SLC25A22 NDUFA13 SLC17A5 RMRP SNIP1 LIFR LINS1 MLXIPL SNX14 LRPPRC LIMK1 VPS13D KMT2D AAAS TRNT1 EFNB1 HMGA2 LMNA EGR2 TRAPPC12 SETD5 ZDHHC9 ATAD3A MRPS2 AASS COQ4 EIF2B1 SBDS EIF2S3 ARID2 IER3IP1 ALG9 SLC25A15 AP3B2 SPRY4 RLIM MED25 EHMT1 LRP5 GAN SPRED1 TRPV4 CAMKMT RORA ELP2 ALG3 ASXL2 ELN LTC4S EMD TANGO2 LAS1L EPCAM RPE65 CSPP1 VPS53 TBL2 CWF19L1 CD96 EP300 VPS13B COQ7 RPL10 TCTN2 ALG13
Neonatal hypotonia
Genes 148
TPM2 MKRN3 TPM3 MAG SNORD115-1 SLC12A6 SOX10 SDHAF1 COL6A1 COL6A2 FLNA COL6A3 HNF1A MYH7 BIN1 PDSS2 UPB1 COL12A1 MAGEL2 VMA21 NKX6-2 RAPSN EARS2 LYRM4 PYROXD1 FKRP DNAJC19 CCDC174 NEXMIF CFL2 ACOX1 NADK2 PCLO GNPTAB PEX3 ACTA1 KAT6A GLYCTK ARX GATA6 LAMA2 NSD1 IPW PEX1 PWRN1 PEX6 PEX10 PEX12 CRPPA ALG11 MRPS16 UQCC2 GRIA4 KLHL41 NDN PSMD12 OCRL POMT1 TUBA8 ITGA7 NEB CHKB CPT2 PRDM5 HNF4A SELENON BCS1L CHRNA1 SHANK3 SH2B1 PDHX GATAD2B SNORD116-1 CHRNB1 TUFM RYR1 TSFM PEX26 CHRND TBC1D24 CHRNE MKRN3-AS1 CASK EEF1A2 TGFB3 SLC25A22 SLC6A8 AP4E1 BPTF LMOD3 VAC14 ZNF469 ARID1B PIEZO2 CCDC88A DST LMNA BRAF CLPB EGR2 SLC16A2 FIG4 FKTN ATXN7 COQ4 IER3IP1 PURA PGAP1 SUMF1 GLS SCN4A NPAP1 HIST1H1E PEX16 ERCC6L2 PEX2 DLAT SYT1 TRNE FGFR1 HADH PWAR1 AP4M1 HERC2 TBR1 AP4B1 CAMTA1 TAF6 HSD17B4 TRNT TNNT1 TMCO1 POMK PLOD1 NONO VPS53 ATP2B3 SNRPN COG4 MED12 MUSK VPS13B FOXG1 MEGF10 SDHA CNTN1 SDHD PRPS1