Mental Retardation, Autosomal Recessive 47; Mrt47

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Mental Retardation, Autosomal Recessive 47; Mrt47

FMN2

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Clinical Features

Phenotypes and symptoms related to Mental Retardation, Autosomal Recessive 47; Mrt47

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Poor speech
Focal-onset seizure
Focal impaired awareness seizure

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Mental Retardation, Autosomal Recessive 47; Mrt47 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-Specific Intellectual Disability Panel. By Genetic Services Laboratory University of Chicago (United States). RPS6KA3, CLIP1, SCN2A, ST3GAL3, SLC16A2, SLC25A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMS, SOX11, CDKL5, STXBP1, SYN1, SYNGAP1, SYP , (...) View the complete list with 153 more genes Panel complete gene list RPS6KA3, CLIP1, SCN2A, ST3GAL3, SLC16A2, SLC25A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMS, SOX11, CDKL5, STXBP1, SYN1, SYNGAP1, SYP, TAF2, TCF4, TSPAN7, MED12, UBE2A, UBE3A, EZR, VLDLR, ZNF41, ZNF711, ZNF81, FTSJ1, KIF4A, NSDHL, ERLIN2, CTCF, CA8, CNTNAP2, CACNG2, FMN2, PCDH19, NLGN4X, NLGN3, SHANK3, SHANK2, ARHGEF9, DEAF1, ZEB2, CASK, ADNP, PCNT, RAB39B, FBXO31, ZMYND11, BRWD3, CDH15, ZNF674, ARID1B, ARX, PHF6, ATP6AP2, ZDHHC9, NAA10, ZNF407, ZDHHC15, UPF3B, MBD5, L2HGDH, ZC3H14, CLIC2, PHF8, TUBA1A, BCOR, VPS13B, ALG6, KIRREL3, CRADD, MED23, EHMT1, CTNNB1, ADAT3, CUL4B, SETD5, OFD1, PGAP1, NSUN2, TTI2, PTCHD1, METTL23, DCX, D2HGDH, MAGT1, CCDC22, FRMPD4, DLG3, IQSEC2, DDHD2, WASHC4, SHROOM4, SOBP, ZNF526, NEXMIF, C12orf57, DYNC1H1, DNMT3A, PACS1, CRBN, CC2D1A, TUSC3, SRPX2, GATAD2B, TRAPPC9, HUWE1, DYRK1A, LINS1, SLC6A17, EIF2S3, EPB41L1, AGTR2, ACSL4, FLNA, FMR1, AFF2, FOXG1, FOXP1, ALDH5A1, GDI1, TECR, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, HSD17B10, HCFC1, ANK3, HPRT1, IDH2, IGBP1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, IL1RAPL1, KCNJ10, KLF8, KPTN, L1CAM, LRP2, MAN1B1, MAOA, ARHGEF6, MECP2, MEF2C, MID1, MID2, NDST1, NHS, NRXN1, NRXN2, OCRL, OPHN1, PAK3, PDHA1, ATRX, KIF1A, PLP1, PQBP1, PRPS1, PRSS12, PURA, RAI1 Specificity 1 % Genes 100 %
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). BDNF, RPS6KA3, SCN2A, SCN8A, SLC16A2, SLC2A1, SLC6A8, SLC9A6, SMC1A, KDM5C, STXBP1, TBR1, TCF4, TSPAN7, TRIO, UBA7, UBE2A, ZNF711, BCL11A, FTSJ1 , (...) View the complete list with 90 more genes Panel complete gene list BDNF, RPS6KA3, SCN2A, SCN8A, SLC16A2, SLC2A1, SLC6A8, SLC9A6, SMC1A, KDM5C, STXBP1, TBR1, TCF4, TSPAN7, TRIO, UBA7, UBE2A, ZNF711, BCL11A, FTSJ1, VPS35, CNTNAP2, FMN2, CIC, NLGN4X, SHANK3, ARHGEF9, DEAF1, CAPS, SNX14, SETBP1, ADNP, PIDD1, RAB39B, ZBTB11, BRWD3, CDH15, ARID1B, ARX, ELP2, ZDHHC9, NAA10, CHD2, SDK2, SIN3A, USP44, CLCN4, SUMF2, UPF3B, MBD5, ZC3H14, MED13L, TRAPPC6B, KIRREL3, SPATA13, MED23, ABI2, CTNNB1, CUL4B, SETD5, TBC1D23, SLAIN1, PTCHD1, METTL23, DDX3X, MED25, DLG3, IQSEC2, WASHC4, TBC1D24, DMBT1, TET1, DCPS, CRBN, CC2D1A, TUSC3, GATAD2B, TRAPPC9, HUWE1, FBXO47, EXTL3, ACSL4, FGD1, AFF2, FOXG1, GDI1, ADGRG2, GRIA3, GRIN1, GRIN2B, HIVEP2, SYNRG, AP1S2, IL1RAPL1, AFF3, LAMC1, MAGEA11, MAN1B1, MAP3K7, MAPK8, MECP2, MEF2C, MPDZ, MYT1L, NDST1, OPHN1, PAK3, ATRX, PQBP1, PRSS12 Specificity 1 % Genes 100 %
Mental retardation - different panels. By Institute of Human Genetics Uniklinik RWTH Aachen (Germany). RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...) View the complete list with 845 more genes Panel complete gene list RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SKI, SLC12A6, SLC16A2, SLC17A5, SLC1A4, BRAF, SLC25A1, SLC25A15, SLC25A16, SLC2A1, SLC31A1, SLC35A1, SLC35A2, SLC35A3, SLC4A4, SLC6A1, SLC6A3, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, KDM5C, SMPD1, SMS, SNAP29, SIK1, SOS1, SOS2, SOX10, SOX2, SOX3, SOX5, SPG11, SPTAN1, SSR4, STIM1, PLK4, CDKL5, STXBP1, SUOX, SURF1, BUB1B, SYN1, SYNGAP1, SYP, TAF1, TAF2, TAT, TBCE, TBR1, TCF12, TCF20, TCF4, TGFBR1, TGFBR2, TGIF1, TH, THRB, ACO2, TIMM8A, NKX2-1, TSPAN7, ACOX1, MED12, TPI1, TREX1, TRIO, TRIP12, TSC1, TSC2, CEP41, TUBA8, TUBB2A, TUBG1, UBE2A, UBE3A, USP9X, KDM6A, VLDLR, VRK1, WNT1, WWOX, XPA, ZIC2, RNF113A, KAT6A, SCAPER, ZNF711, ZNF81, ACTB, ARL6, FTSJ1, HDAC8, KIF4A, MCOLN1, NSDHL, RLIM, UBE3B, USP27X, ZBTB20, ERLIN2, FBXL4, CTCF, CA2, CA5A, SLC12A5, CA8, CNTNAP2, CACNA1C, CACNA1G, CACNA2D2, HDAC4, FMN2, CCDC78, NSD1, CAD, RAB18, AUTS2, PCDH19, NLGN4X, NLGN3, SHANK3, SHANK2, SCYL1, ACTG1, ELOVL4, TMEM237, MRPS22, ARHGEF9, DEAF1, CAPN10, COG5, ZEB2, PIGT, PPP1R15B, CASK, SNX14, CASP2, MICU1, CBL, SHOC2, MBTPS2, GPHN, ANKH, CBS, PUS1, JAM3, SETBP1, ALG9, LRPPRC, GEMIN4, ADNP, CCNA2, BSCL2, KMT2B, ARFGEF2, PANK2, NDUFAF5, PLCB1, SAMHD1, APTX, MPLKIP, PCNT, SFXN4, TBC1D20, MGME1, DNAJC5, UPB1, TRIM32, NLRP3, RAB39B, FBXO31, TUBGCP4, BCAP31, ZNF423, UBR1, COQ8A, FIG4, HAX1, STAMBP, ZMYND11, SRCAP, CLP1, RAB3GAP1, EXOSC2, ACVR1, CDON, RAB3GAP2, COLEC11, CENPJ, WAC, BRWD3, GMNN, GJC2, CDH15, KAT6B, NDE1, PORCN, ACY1, CDK5, PDSS1, CDK6, AFF4, PGAP2, EXOSC3, CEP83, FKRP, ARID2, ARID1B, ARX, GPT2, SPATA5, TUBGCP6, PHF6, TMCO1, ELP2, PECR, ALG1, ATP6AP2, ASXL1, PRIMA1, SETD2, DEPDC5, ZDHHC9, ATP6V0A2, SPART, RNASEH2A, IER3IP1, CENPE, SLC39A6, COG4, COG6, COG7, COG8, IFT27, RTTN, PMPCA, CDK5RAP2, ASCC3, NAA10, BBS7, POGZ, KCNT1, MMAA, IFIH1, GBA2, ASPM, THOC2, NALCN, POMGNT1, CHD2, FRAS1, DOCK7, ALG12, CHKB, COQ4, CNKSR1, CNKSR2, POMT2, ISCA2, SLC25A22, TECPR2, KIAA0586, CCDC88C, AARS, SNX27, TTC8, CHD8, SLC35C1, B3GLCT, CLCN4, SPRED1, NUBPL, CHAMP1, SMOC1, UBR7, FRY, NDUFA11, UPF3B, MBD5, APOPT1, L2HGDH, ZC3H14, CYP2U1, CHD7, CLIC2, PHF8, TPP1, CLN3, CLN5, ZFYVE26, TUBA1A, CLN6, TUBB4A, CLN8, BCOR, HACE1, SERAC1, FARS2, TBC1D7, RNF125, GTF2H5, RMND1, ANKRD11, DYM, PDHX, ABHD5, INPP5E, ACAD9, AHI1, SATB2, RNASET2, BRAT1, VPS13B, RBM28, COL18A1, KCTD7, COL4A1, COL4A2, COL4A3BP, ADAR, COX10, COX15, GMPPA, GMPPB, MED13L, PEX26, PDSS2, ALG3, SLC13A5, ALG6, ALG2, ALG8, PNPT1, PIGO, ETHE1, ACBD6, CRADD, DOLK, KIF1BP, CREBBP, DHTKD1, PGAP3, MED23, MED17, NDUFA12, APC2, RNASEH2C, PTRH2, POC1A, WDR62, TCTN3, MMACHC, NECAP1, KANSL1, FAM126A, SIL1, EHMT1, FTO, SMC3, RABL6, MFF, MOGS, CEP104, LARP7, VPS37A, ZC4H2, CTDP1, TMEM216, WDR45B, PRMT9, CTNNB1, ADAT3, MMADHC, COQ2, AHDC1, ZCCHC8, CTSD, CTSF, DDX59, KATNAL2, RAB40AL, ARL13B, TANGO2, FRMD4A, ANO10, CCDC88A, DARS2, CUL4B, PRMT7, SETD5, TTC21B, OFD1, RNASEH2B, ADK, PGAP1, LAS1L, TRAPPC11, TCTN2, CPLANE1, SRD5A3, CEP63, MFSD2A, POMGNT2, WDR73, GON4L, TRMT1, PIGG, NSUN2, KRBOX4, PIGV, TCTN1, TMEM135, CSPP1, FAR1, TM4SF20, TTI2, POMK, NARS2, BBS10, HEPACAM, PTCHD1, HGSNAT, UNC80, WDR81, BBS12, DAG1, DARS, C12orf65, CKAP2L, HIKESHI, TMEM138, DBT, METTL23, PARP1, DCX, DDC, ESCO2, DDOST, ACSF3, DDX3X, WDPCP, BBIP1, CCDC28B, CCDC115, ADRA2B, D2HGDH, TMEM67, TRMT10A, MFSD8, DHCR24, B3GALNT2, DHCR7, DHFR, CYB5R3, DIAPH1, MED25, NIPBL, MAGT1, DKC1, CCDC22, WDR45, EMC1, DLD, WASHC5, FRMPD4, SETD1A, KDM6B, DLG3, CEP290, SZT2, ZBTB40, IQSEC2, KIAA0556, KDM1A, CEP135, ADSL, DDHD2, RPGRIP1L, TBC1D24, SHROOM4, CC2D2A, SOBP, DMD, DIP2B, CEP152, ZSWIM6, DMPK, EPG5, KLHL15, ASXL3, ZNF526, EARS2, RSPRY1, CCBE1, NEXMIF, ROGDI, C12orf57, TBL1XR1, DYNC1H1, DNM1, DNM1L, DNMT3A, DNMT3B, DCPS, DPAGT1, BBS9, DPH1, PACS1, DPM1, DPM2, DPM3, POLR3A, DPP6, DPYD, CRBN, ATP13A2, RFT1, CC2D1A, TUSC3, PYCR2, POLR3B, IFT172, KIF7, PRRT2, DNAJC19, STT3B, STRA6, CLPB, TMEM165, GATAD2B, TUBB2B, TRAPPC9, POC1B, EFTUD2, ALG13, HUWE1, DYRK1A, LINS1, SLC6A17, AGA, EEF1A2, EEF1B2, MEGF8, ALG11, AGPAT2, EIF2AK3, EIF2S3, EMX2, ENTPD1, EP300, AHCY, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, EZH2, ACSL4, FANCD2, FASN, AK1, FKTN, FGD1, FGFR1, FGFR2, FGFR3, FH, TMEM231, ISPD, FLNA, FMR1, AFF2, FOXG1, FOXP1, AKT3, MTOR, PET100, FUCA1, ALDH3A2, GABRA1, ALDH5A1, GABRB3, GAD1, GALE, B4GALNT1, GALT, GAMT, GATM, GCH1, GCSH, GDI1, GFAP, GK, GLDC, GLI2, GLI3, GNAO1, GNAS, GNPAT, GNS, GPC3, GABBR2, ADGRG1, TECR, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GRN, GSS, GTF2E2, GUSB, AMT, HIST3H3, HIST1H4B, HSD17B10, HCCS, HCFC1, HCN1, HERC2, HESX1, ANK3, HLCS, HMGB3, HNRNPK, HOXA1, HPD, HPRT1, HRAS, IDS, IDUA, IGF1, AP1S1, AP1S2, AP3B1, AP4B1, AP4E1, AP4M1, AP4S1, IKBKG, IL1RAPL1, ABCC9, IMPA1, INPP4A, ABCD1, STT3A, ITPA, KATNB1, KCNA2, KCNB1, KCNH1, KCNJ11, KCNJ6, KCNK9, KCNQ2, KCNQ3, KIF2A, KIF5C, KIF11, KPTN, KRAS, L1CAM, LAMA1, LAMA2, LAMB1, LAMC3, LAMP2, LARGE1, COG1, LIG4, LRP2, LZTFL1, LZTR1, MAB21L2, SMAD4, MAF, MAG, ABCD4, MAGEL2, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, ARHGEF6, MASP1, MAT1A, MCCC1, MCCC2, MCPH1, MECP2, MEF2C, MEIS2, MGAT2, MID1, MID2, MKKS, MKS1, KMT2D, MLYCD, MOCS1, MOCS2, MPDU1, MPDZ, MPI, ASAH1, MT-CO1, MT-CO2, MT-CO3, ASL, MT-ND5, MTR, MTRR, MT-TK, MT-TL1, MT-TS1, MT-TV, MMUT, ASNS, MVK, MYCN, ASPA, MYO5A, MYT1L, NAGA, NAGLU, NBN, NDP, NDST1, NDUFA1, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NF1, NFIX, NHS, PNP, NPHP1, NR2F1, NRAS, ATP1A2, NRXN1, ATP1A3, NT5C2, NTRK1, OCLN, OCRL, ATP2A2, OPHN1, ORC1, OTX2, ATP6V1B2, PAFAH1B1, PAK3, PAX6, PC, ATP7A, AIFM1, PDE4D, PDE6D, PDHA1, ATR, PEPD, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX6, ATRX, PEX7, KIF1A, PGK1, AUH, PGM1, PGM3, PHGDH, PIGA, PIGN, PIK3CA, PIK3R1, PIK3R2, PLP1, PMM2, PNKP, POMT1, B4GALT1, PPOX, B4GALT7, PPP2R1A, PPP2R5D, PPT1, PQBP1, PRKCG, PRKRA, PRODH, PRPS1, PRSS12, SLC33A1, PTCH1, PTDSS1, PTEN, PTPN11, BBS1, BBS2, BBS4, BBS5, PURA, NECTIN1, PEX5, PYCR1, ALDH18A1, QARS, RAB27A, RAD21, RAF1, RAI1, RALGDS, BCKDHA, RARB, BCKDHB, RASA2, KDM5A, RBBP8, RELN Specificity 1 % Genes 100 %
FMN2. By Fulgent Genetics Fulgent Genetics (United States). FMN2 Specificity 100 % Genes 100 %
Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes. By Reference Laboratory Genetics (Spain). RPS6KA3, ST3GAL3, SLC6A8, SMARCA4, SMARCB1, ARID1A, KDM5C, STXBP1, SYNGAP1, SYP, TAF2, TSPAN7, MED12, TRIO, VLDLR, ZBTB18, ZNF711, FTSJ1, ERLIN2, CA8 , (...) View the complete list with 71 more genes Panel complete gene list RPS6KA3, ST3GAL3, SLC6A8, SMARCA4, SMARCB1, ARID1A, KDM5C, STXBP1, SYNGAP1, SYP, TAF2, TSPAN7, MED12, TRIO, VLDLR, ZBTB18, ZNF711, FTSJ1, ERLIN2, CA8, CNTNAP2, CACNG2, FMN2, NLGN4X, DEAF1, CASK, SETBP1, ADNP, ZMYND11, BRWD3, CDH15, ARID1B, ARX, POGZ, UPF3B, MBD5, ZC3H14, KIRREL3, CRADD, MED23, KANSL1, EHMT1, CTNNB1, NSUN2, TTI2, DLG3, WASHC4, SHROOM4, SOBP, TBL1XR1, DYNC1H1, DPP6, CRBN, CC2D1A, TUSC3, TRAPPC9, HUWE1, DYRK1A, LINS1, EPB41L1, ACSL4, FGD1, AFF2, GDI1, GNB1, TECR, GRIK2, GRIN1, GRIN2B, HERC2, ANK3, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, IL1RAPL1, MAN1B1, ARHGEF6, MECP2, MEF2C, MYT1L, NDST1, NRXN1, OPHN1, PAK3, ATRX, KIF1A, PPP2R1A, PQBP1, PRSS12 Specificity 2 % Genes 100 %
Autosomal Recessive Mental Retardation, Panel Massive Sequencing (NGS) 32 Genes. By Reference Laboratory Genetics (Spain). ST3GAL3, STXBP1, TAF2, VLDLR, ERLIN2, CA8, CNTNAP2, FMN2, ZC3H14, CRADD, MED23, NSUN2, TTI2, WASHC4, SOBP, CRBN, CC2D1A, TUSC3, TRAPPC9, LINS1 , (...) View the complete list with 12 more genes Panel complete gene list ST3GAL3, STXBP1, TAF2, VLDLR, ERLIN2, CA8, CNTNAP2, FMN2, ZC3H14, CRADD, MED23, NSUN2, TTI2, WASHC4, SOBP, CRBN, CC2D1A, TUSC3, TRAPPC9, LINS1, TECR, GRIK2, HERC2, ANK3, AP4B1, AP4E1, AP4M1, AP4S1, MAN1B1, NDST1, NRXN1, PRSS12 Specificity 4 % Genes 100 %

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Sources and references

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