SNPMiner Trials by Shray Alag


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Report for Mutation T93M

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans

RSH/Smith-Lemli-Opitz syndrome (SLOS) is one that causes mental retardation. It is common in the Caucasian population but rare in African American and African black populations. It has been shown that SLOS is caused by a specific defect in DHCR7, an enzyme used in cholesterol metabolism. Studies have already been done to determine the frequency of the SLOS-causing mutations in various geographic Caucasian populations. This study will investigate the frequency of the DHCR7 mutations in the African American population. If the frequency observed suggests that SLOS cases are not being identified in this ethnic group, the study will provide the rationale for future studies to identify these patients. The sample size will be 1,600. The study population will consist of archived biological specimens in the form of newborn screening blood spots from two newborn screening centers, one in Maryland and one in Pennsylvania. Subjects will be of African American ethnicity, including blacks of African, Caribbean, and Central American descent. Genomic DNA will be extracted from blood spots and screened for the six common SLOS mutations. If SLOS syndrome is found, followup will be attempted for the Maryland samples (the Pennsylvania samples will be totally anonymous).

NCT00017732 Smith-Lemli-Opitz Syndrome
MeSH: Cleft Palate Hypertelorism Hypospadias Genetic Diseases, X-Linked Smith-Lemli-Opitz Syndrome Syndrome
HPO: Cleft palate Hypertelorism

In these Caucasian populations, the most common mutations (IVS8-1G>C, W151X, V326L, R352W, R404C and T93M) account for 60% of SLOS mutant alleles. --- V326L --- --- R352W --- --- R404C --- --- T93M ---



HPO Nodes


Cleft palate
Genes 779
LETM1 ARID1B RPL18 MSX2 GLI3 ZSWIM6 ORC1 RIPK4 TP63 MBTPS2 TP63 MYH3 PIGL TGIF1 GLI3 PHGDH SLC18A3 WDPCP TMEM67 C2CD3 ZMPSTE24 INPPL1 COL2A1 MIR140 DLL3 FGF8 TXNL4A PTCH2 TAC3 GNAO1 SLC2A10 AMER1 ASXL1 MKS1 FTO PIGV TBX1 DHCR24 BPNT2 RPS7 CEP290 HOXD13 EYA1 KIAA0586 STAC3 HIRA SIX1 POLR1A LARGE1 MCTP2 WNT4 COL11A1 TCTN2 DOK7 CHRND KCNH1 COL11A1 BUB1B NECTIN1 ESS2 GLI2 COL2A1 CDON KISS1R SPEG SATB2 SF3B4 CHRNG SNRPB YAP1 ARVCF ATP6V1B2 B3GLCT DGCR6 COL4A1 PIGV B9D2 ATRX PIEZO2 SH2B1 CHST14 JMJD1C FKTN CEP41 ARHGAP29 FGF17 SMAD3 SUFU COL9A3 SOX2 IRF6 CDC45 SLC25A22 SMARCA4 RPGRIP1L BUB1B FLNB FAM20C FOXC2 RPS26 INPP5E RECQL4 DUSP6 DLL1 KRAS ARCN1 SIX3 POLR1C SIX3 FANCD2 POU1F1 NODAL CHD7 IGBP1 BRCA1 WDR35 ANOS1 FLNB SEPTIN9 LETM1 MAP2K2 WHCR POMT2 GREB1L KRAS RAI1 ITGA8 GATA1 ARID1B CCDC141 GNAI3 GATA3 CC2D2A DDX59 MEIS2 GPC4 HSPG2 CDH1 DLG1 FGFR1 HESX1 RPS23 BMP4 DUSP6 DGCR8 OTX2 HES7 FANCL LMNA RBM10 SMARCC2 COL11A2 MASP1 FOXE1 POMT1 PLCB4 MAP2K1 ESCO2 COL2A1 RAD21 MAFB ARX SOX9 SLC26A2 POLR1D ARHGAP31 IFT140 RPS19 SLC35D1 GPC3 DONSON TRIM8 ALX3 STAT3 SETD5 TCOF1 ALX1 CDC45 HYLS1 TBR1 FGFR2 SLC35D1 SUMO1 PTDSS1 RAD51C TWIST1 RB1 DDX59 G6PC3 CSPP1 ACTG2 MID1 RPL35A OTX2 SMS SON PDE6D PAX3 MYH3 NSMF GAS1 KMT2D RFWD3 LFNG CDT1 RAP1A LBR HNRNPK FZD2 ATN1 SIK1 PIGL TGFBR1 COL11A2 HESX1 ORC1 GNRH1 FANCI MKKS DVL3 NSD2 EBP KIF7 EPG5 FLNA MAD2L2 HYAL1 FGFR2 SEMA3A ORC4 TMEM216 SCN2A OFD1 RPL26 PIGY INTU FANCA FGFRL1 TUBB KISS1R POLR1D SLX4 RPGRIP1L PHGDH CHRNA1 TRIP13 STAG2 B3GLCT TAPT1 KIAA0556 CEP55 RAP1B B4GAT1 SIX5 MKS1 HSPG2 TMCO1 FGF20 FLNA RPS10 TGFBR2 CDH1 KMT2D FLNA PALB2 GMNN TGFB3 MESP2 B3GALT6 HS6ST1 RPL26 HDAC8 SPRY4 TACR3 GRHL3 COL11A1 B3GALT6 SMOC1 COG1 GRHL3 KMT2C PROKR2 PTPN11 EFNB1 XYLT1 DDX3X UFD1 KANSL1 SMAD4 NBN MYMK RPS15A MYH3 KAT6A ZNF469 CCDC141 WASHC5 B4GALT7 COLEC10 COL2A1 SOX9 FLNB PLXND1 COL11A2 CASK OFD1 BUB1 CENPF SHH FGFR1 RPS29 ESCO2 GLI2 NSMF ZIC2 TRRAP EYA1 PIGO CDH11 POMT2 BRAF POLA1 GJA1 TP63 TCTN2 MEGF10 EXOC6B POLR1C DCC NID1 B9D1 KDM6A PQBP1 CHST3 CRPPA RPS19 BRCA2 FLNA TFAP2A PRRX1 SCARF2 EDN1 TBCE SPECC1L PGAP3 GPC4 PQBP1 EDNRA WNT7A SMARCB1 IRF6 KIF7 FKRP NEDD4L GNAI3 COL9A2 FOXE1 IRF6 HOXA2 GRHL3 TGDS ARID2 POMGNT1 PEX2 TMCO1 PNKP FRAS1 COL2A1 FGFR1 SF3B4 FLII MSX2 FGD1 REV3L FKRP IL17RD FGF17 USP9X NPHP1 FANCC COLEC11 FKBP14 POMT2 STAMBP RPS17 PROKR2 TGFBR2 NEB RECQL4 GLI2 MYMK CDH11 EYA1 UBE2T B3GAT3 PTCH1 SELENOI STXBP1 TBC1D24 MAPRE2 EIF2S3 BCOR NIPBL PGAP2 RAI1 ANOS1 IQSEC2 FLNB TTN CDON FLRT3 MUSK TUBB DHCR7 KCNN3 PROKR2 TCTN3 TBX1 TMEM216 TMEM231 CC2D2A IRF6 KCNA1 ERCC4 KIFBP RIPK4 RUNX2 SOX10 SMC3 COL11A1 DISP1 SOX4 SPRY4 GLI3 CDKL5 FANCF RPL15 FOXA2 ADA2 YAP1 CDH1 DGCR2 IL1B PORCN SEC23A CILK1 BRAF KIF7 DHCR24 PLCB4 CTBP1 GDF6 UBB PROK2 LARGE1 PRDM5 COL11A2 NECTIN1 SOX9 PSAT1 PIGW GNRHR BMPER TMEM107 HS6ST1 TCTN3 FAM20C IRF6 RUNX2 TBX4 SEC24C RPL31 FANCG MEOX1 ARID2 TGIF1 ALX1 TWIST1 RIPPLY2 RPS26 ATR MAPRE2 RPS27 DLX4 MED12 GJB2 COMT ZSWIM6 GPC3 SOX11 TDGF1 RPL11 TBX22 IL1RN NUP88 TACR3 MEIS2 SPECC1L TBX2 FGFR3 DVL3 ARID1A PIEZO2 FGFR1 NUP107 COL9A1 CHN1 PIEZO2 BGN WNT5A FANCB FLNA KMT2A RAD51 TCOF1 TBX15 COL2A1 SMCHD1 GP1BB POLR3A WDR11 BCOR KIAA0753 CD96 NOTCH2 SEMA3E RPL5 COL2A1 AMMECR1 NSMF SIX1 NEK1 RPGRIP1 PTCH1 ASXL1 OFD1 TP63 CTNND1 XRCC2 FOXC2 B3GALNT2 RPGRIP1L RIPK4 RAPSN NIPBL CHSY1 PIEZO2 FKTN HAAO ZEB2 CEP120 TBX22 RPL5 STAC3 AHI1 LMX1B TMEM237 COL11A1 TGFB2 RREB1 POMK GDF6 HESX1 RPL35 GJA1 PSAT1 MYT1 CCDC22 CTCF ALX3 GDF3 ALG3 USP9X LMNA FGFR2 CEP290 CDC6 TMEM216 SLC10A7 SMARCE1 CPLANE1 TP63 SLC39A13 BMPER MBTPS2 TBX22 DYNC2H1 FGFR1 DPF2 LOXL3 TP63 MSX1 RPL11 FLNB SUFU OTX2 KIF7 PROK2 MEOX1 SMS VAX1 WASHC5 POMGNT2 UBB CHRNG FGF8 SMCHD1 FGFR2 COL2A1 DAG1 PIGQ FGF9 CHRNG TBX1 PROP1 SMC3 SATB2 NBN EFTUD2 FGFR1 HDAC8 GNB1 COL2A1 BMP4 SETD5 SLC26A2 PIGP MKS1 AMER1 RECQL4 GMNN GRHL3 HS6ST1 ERCC5 DEAF1 KDM6A NEUROD2 MAP3K7 PGAP2 WNT4 OFD1 GNB1 PTCH1 SIX1 ORC6 BUB3 COL11A1 TWIST1 COL25A1 FANCE FANCM MUSK BIN1 KDM6A TCTN3 MSX1 LIG4 DHODH FEZF1 COL2A1 SMOC1 TP63 FAM149B1 RXYLT1 ARID1B WDR11 FLNA PIGN COL2A1 ARNT2 FOXH1 SEPTIN9 PIGN RBM10 KAT6B SMAD4 EARS2 EDN1 CHD7 DLX4 DHODH TTC37 ACTB NSD2 WDR35 TP63 NUP107 EFTUD2 FGFR2 PEX5 PIGL FGFR1 CHD7 LHX4 CRKL CPLX1 HYLS1 CEP120 SLC26A2 RNU4ATAC NSUN2 KLHL41 EIF4A3 TMEM67 TRPV4 XYLT1 MED25 PIGO RYR1 NELFA ZMPSTE24 MYOD1 POMT1 SLC26A2 FGFR2 RPL27 DHCR7 SHH SMC1A PGM1 CHD7 TMEM231 RET RPS24 PROKR2 FLNB PEX7 RAD21 KLHL7 GMPPB COL11A1 GLI2 TBX1 ECEL1 MAPK1 CPLANE1 CYP26C1 FGF8 PHF8 SNRPB KCNJ2 WNT3 NEK1 ANKRD11 FGFR2 TBX6 PGAP3 SLC26A2 TGFBR1 DVL1 SLC25A19 KCNK9 KISS1 PPP3CA KIF14 NECTIN1 NFASC COL11A2 SEMA3E IRF6 FOXP2 TSR2 BCR CHD7 BRIP1 FANCL SOX3 B3GALT6 FGFR2 SON CEP57 COL11A1 TBX1 RPS28 FGD1 TGDS B9D2 RBM8A SMAD3
Hypertelorism
Genes 904
LETM1 FAT4 YWHAE ZSWIM6 ZMYND11 TRIM37 MYPN PIGL FRAS1 GPC4 PHGDH SLC18A3 STAT3 ANKH WDPCP WDPCP PAX3 PAX3 FOXC1 LRP4 MYH3 FAT4 ZMPSTE24 PEPD MIR140 CACNA1G TXNL4A ROR2 CTU2 PTCH2 TAC3 TFAP2B WDR73 ACTG1 GJA1 SLC2A10 ASXL1 SALL4 MKS1 PIGV TBX1 TMEM67 CEP290 PTDSS1 ALG8 HIRA ALDH6A1 ALG9 SOST MCTP2 COL11A1 TRNF DOK7 CHRND KCNH1 ABCC9 ALDH18A1 EXT2 EFEMP2 SUFU KISS1R GATA6 RSPRY1 KAT6B STRADA LZTR1 CHRNG BCL11B NEB PSMD12 NSUN2 RAI1 SEC23A ARVCF ATP6V1B2 RLIM B3GLCT PIGV CHD3 B9D2 ATRX SH2B1 CHST14 JMJD1C DOCK6 ACTB ND5 HELLS HSD17B4 NF1 NONO SMAD3 SHROOM4 TGFBR1 TTC37 PDHX BLNK BMP2 SPRED1 KIAA0586 TP53RK MAT2A ATP6V0A2 BUB1B FLNB FAM20C DNMT3A ZIC2 FLNA RYR1 MPLKIP ERMARD FREM1 FOXE3 RUSC2 MAF RECQL4 MOCS1 SMAD4 DUSP6 ALX4 NGLY1 DNMT3B ACTG1 DCHS1 SHOC2 LAGE3 DPF2 FGFR1 AUTS2 FANCD2 ACY1 PEX6 GLI3 QRICH1 CHD7 CHD4 LZTR1 FGFR1 POC1A BRCA1 PPP2R1A MAP2K1 ZIC3 ANOS1 FLNB DVL1 LETM1 MAP2K2 WHCR FGFR2 GREB1L KRAS RAI1 ITGA8 AVP MTOR ERF DVL3 CC2D2A DDX59 GPC4 FGFR2 HSPG2 CDH1 SEMA5A ALG9 RERE TMEM94 CCBE1 FANCL ALG13 TBL1XR1 PACS1 CENPJ EZH2 CPLX1 LMNA COX3 EED RBM10 IL1RAPL1 MRAS MASP1 POLR3A NF1 GTF2E2 MAP2K1 PIGA SMAD3 ESCO2 ZBTB18 ALDH18A1 TWIST1 ITGA3 NKX3-2 FBLN5 COX2 SOX9 SLC26A2 POLR1D FREM2 AFF4 FLNA TFAP2B GPC3 ALX3 MED13L ACTB TCOF1 PTEN ALX1 MAP2K2 ACTL6B TBR1 FGFR2 DICER1 ALG1 GATAD2B TBCD PTDSS1 RAD51C TWIST1 FREM1 DDX59 ERF NXN CSPP1 ACY1 MID1 EPG5 SMS SETD2 SOST SOS2 ERCC2 PDE6D RASA2 TXNL4A MYH3 NSMF PSMD12 ATP6V0A2 NRAS KIF15 SH3PXD2B SOS1 RFWD3 TBX15 ATRX TGFBR2 PTEN RAF1 LBR PTH1R FZD2 BMPR1A FGFR3 TRNQ RPS6KA3 PIGL TGFBR1 SIM1 FIBP HERC1 GNRH1 FANCI PHIP RPGRIP1L PRPS1 ZBTB18 ZIC1 KIAA1109 DVL3 NSD2 EBP KIF7 LRRC8A CCBE1 COLEC10 EPG5 PEX6 FLNA MAD2L2 MRPS14 FGFR2 LMBR1 BRCA1 LRPPRC CHST3 ACTB OFD1 MYH11 FGF3 PIGY WDR4 FGF10 INTU FANCA VSX1 LBR FGFRL1 SLX4 MTOR PHGDH CHRNA1 B3GLCT DPM1 TAPT1 KIAA0556 CEP55 CC2D2A MKS1 TMCO1 FGF20 FLNA OSGEP PYCR1 KMT2A TGFBR2 FLCN FLNA PALB2 SMC1A TGFB3 SMG9 ELN IL11RA NALCN BRAF SLC29A3 UMPS KIF7 PIK3CA ND6 FOXP1 DSE PTCH1 COG1 PTPN11 SKI NOTCH3 GLI3 EFNB1 KBTBD13 LOX UFD1 PALB2 CAMTA1 ABCD4 SNAP29 WASHC5 B4GALT7 CHST3 COLEC10 BPTF SOX9 COL11A2 ATP6V1A OFD1 LRP2 CENPF RAF1 ESCO2 EHMT1 TAF1 NF1 FZD2 MMP2 TRRAP PIGO SLC25A24 TPRKB CDH11 SLC45A1 LRRC8A BRAF PPP1CB TCTN2 CDCA7 KCNH1 POLR1C HNRNPH2 FGFR3 DCHS1 ITGA8 B9D1 ERCC3 CNTN1 CD79A CDK10 CHST3 RPS19 HELLS LRP4 BRCA2 ANKH FLNA TFAP2A ATP6V1A FGFR2 RIT1 C12ORF57 PIK3R2 COL1A1 KMT2A PGAP3 TWIST1 GPC4 TMEM216 ND1 DPH1 VAC14 PIK3R1 UBE2A PAX3 ACTA2 ACOX1 PEX2 TMCO1 ZBTB24 FRAS1 FGFR1 FLII FGD1 AKT3 NRAS FGF17 CCDC22 FANCC FREM1 COLEC11 CAMK2A PPP2CA STAMBP PROKR2 TGFBR2 INPPL1 CASK PRKAR1A NEB RECQL4 RB1 CDH11 CSPP1 UBE2T B3GAT3 PTCH1 TRAPPC9 TONSL PPP2R5D PEX1 GATAD2B MRAS GTF2H5 RPL35A TBC1D24 MAPRE2 TCF12 FGFR2 KIF7 NFIX RAI1 IQSEC2 ZBTB24 PYCR1 FAM111A MUSK TUBB LRP5 DHCR7 PTRH2 KCNN3 TCTN3 TMEM216 TMEM231 TWIST2 FGFR2 EFNB1 ADK HBA1 TENM3 ERCC4 KIFBP RIPK4 RUNX2 FLNA TBCD SHOC2 RRAS2 SPART NKX2-6 SH3PXD2B KIF7 CASK SPRY4 TPRKB TBCE ATP6V1E1 MFAP5 SLC25A24 GLI3 FANCF SUFU BRPF1 FGFR1 C12ORF57 ALX4 RPS7 PITX2 GJA1 SEC23A BRAF ASXL3 GPAA1 SET CTBP1 PARS2 PTCH2 USB1 PROK2 HRAS PSAT1 BRAF PIGW GNRHR TMEM107 RSRC1 HS6ST1 TRAPPC9 MAP3K7 AHDC1 PPP3CA TCTN3 EMC1 RUNX2 IFT43 OGT SEC24C TGFB2 FANCG DNAJC21 ALX1 FUCA1 TWIST1 FLI1 GNE TCF3 MED12 PEX3 COMT FGFR3 KLF13 ZSWIM6 GPC3 KNL1 DDR2 BCL11B NUP88 HMGA2 TACR3 EED SPECC1L TBX2 FGFR3 DVL3 TRNH CD79B PSAT1 PHACTR1 PACS1 PIEZO2 BGN TRNL1 KREMEN1 WNT5A THOC2 FANCB FGFR2 FLNA RAD51 ANTXR1 SMCHD1 GP1BB POLR3A COG1 SKIV2L AP4S1 OSGEP KIAA0753 NOTCH2 SEMA3E SKIV2L RPL5 PACS2 POLR1A TRNS1 ALG13 RPGRIP1 INSR BRAF ASXL1 OFD1 GK CTNND1 XRCC2 FIG4 SPINT2 ACTA1 MASP1 RPGRIP1L CTNND1 RIPK4 RAPSN CHSY1 WAC RMRP LEMD3 PTPN11 NSD1 COX1 ZEB2 DVL1 PDE4D FOXC1 FGFR2 HNRNPU PRKAR1A SOS2 CHD8 CIT RRAS SPECC1L MEGF8 TGFB2 GLE1 TRNW RREB1 PEPD RNU4ATAC SIN3A APC GJA1 PSAT1 CCDC22 CTCF CCNK ALX3 TBX1 ADAMTS3 SUFU LMNA FGFR2 POGZ FGFR2 ATP6V1E1 PTPN11 TPM2 KAT6B TMEM216 EBF3 KRAS CPLANE1 SIX2 SKI COL3A1 LTBP4 FLNA BMPER APC APC2 RIT1 WDR73 WNT5A NSD1 HACE1 CSNK2A1 ANTXR1 FBN1 EHMT1 KRAS FLNB BCORL1 SUFU COL1A2 FGFR3 KIF7 MED12 SMS TARS1 NXN ND4 WASHC5 MAPK8IP3 CHRNG ATRX FGF8 THRA BPTF GBA UBE3B IRX5 FGFR2 ADAMTS3 COL2A1 CHRNG TBX1 CBL SALL4 ANK1 TRIP12 AUTS2 SOS1 PTPN11 RNF113A ATP6V0A2 FGFR1 PMM2 HDAC8 MARS2 SPECC1L PITX2 TTC7A AGA TMEM237 FBN1 AMER1 KIAA0753 TP53RK EZH2 SEC24D CDK13 MAP3K7 FGFR3 CCDC47 JAG1 DEAF1 FGFR1 MAN1B1 BRAF EIF2AK3 ROR2 MAP3K7 PGAP2 RPS6KA3 OFD1 MAN1B1 EXTL3 BNC2 FGFR2 SIK3 COX7B COL11A1 SRD5A3 TWIST1 TBCE PPP1CB FANCE FANCM PRKG1 MYLK MUSK IGHM RAF1 SNAP29 FLNA TCTN3 COLEC11 LIG4 KLHL41 COL2A1 FAM149B1 ARID1B WDR11 FLNA ELN ACTA1 SETBP1 PIGN PIGN RBM10 SMAD4 RPS6KA3 CCND2 BRAF TBX4 SUZ12 ADGRG6 FAT4 CHD7 FIG4 LRP2 CASK NUP107 DLX4 AKT1 SLC2A10 TWIST2 FGFR2 TTC37 NSD2 WDR35 ERF CDCA7 SPART FGFR2 PEX5 RAF1 PIGL EXOSC9 A2ML1 FGFR1 GPC4 FBXO11 TGFB3 CPLX1 SETBP1 CEP120 NSUN2 TRNS2 TMEM67 MED25 PIGO PAFAH1B1 TPM3 NELFA ZMPSTE24 COL27A1 HBA2 IGLL1 NKX2-5 XYLT2 SIN3A MYOD1 MEF2C SLC26A2 FGFR2 NSD1 TRIP4 KLHL41 DHCR7 TMEM231 SLC12A6 ACOX1 RET FBN1 PIGN FLNB LRP4 ZIC1 CDH1 KLHL7 COL11A1 CDC42 NEB AIFM1 TBX1 CPLANE1 ASXL3 ASXL2 SETBP1 ANKRD11 KCNJ2 FH CHRNA7 ANKRD11 FGFR2 GLI3 PIK3R1 NOTCH3 PGAP3 TGFBR1 DVL1 KISS1 NFASC POR SMO TPM3 NUP133 HRAS SEMA3E GLB1 GRIP1 ALX4 NRAS CHD7 CTNND2 BRIP1 FANCL TWIST2 FGFR2 FAT4 FGFR3 TBX1 GNE NBAS ATRX FGD1 PIK3R2 TGDS DNMT3B SMAD3 MOCS2 ATRX