Mental Retardation, X-linked 46; Mrx46

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, X-linked 46; Mrx46

ARHGEF6

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Mental Retardation, X-linked 46; Mrx46

Intellectual disability
Sensorineural hearing impairment
Intellectual disability, moderate
Intellectual disability, profound

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, X-linked 46; Mrx46 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS XLID Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TAF1, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZMYM3, ZNF41, ZNF711 , (...) View the complete list with 94 more genes Panel complete gene list RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TAF1, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZMYM3, ZNF41, ZNF711, ZNF81, FTSJ1, HDAC8, NSDHL, PCDH19, NLGN4X, NLGN3, WDR13, ARHGEF9, CASK, MBTPS2, RAB39B, BRWD3, PORCN, ARX, PHF6, ATP6AP2, ZDHHC9, NAA10, THOC2, CNKSR2, CLCN4, ZDHHC15, UPF3B, CLIC2, PHF8, BCOR, ZC4H2, RAB40AL, CUL4B, OFD1, LAS1L, PTCHD1, FAAH2, DCX, ZCCHC12, MAGT1, DKC1, CCDC22, FRMPD4, DLG3, IQSEC2, SHROOM4, DMD, NEXMIF, SRPX2, HUWE1, EBP, EIF2S3, AGTR2, ACSL4, FANCB, FGD1, FLNA, FMR1, AFF2, GDI1, GK, GPC3, GRIA3, GSPT2, HSD17B10, HCCS, HCFC1, HPRT1, IDS, IGBP1, AP1S2, IL1RAPL1, ABCD1, KLF8, L1CAM, LAMP2, MAOA, ARHGEF6, MECP2, MID1, MTM1, NDP, NDUFA1, NHS, OCRL, OGT, OPHN1, OTC, PAK3, ATP7A, CDK16, AIFM1, ATRX, PLP1, PQBP1, PRPS1, RBM10 Specificity 1 % Genes 100 %
X-linked mental retardation 46. By Center for Human Genetics, Inc (United States). ARHGEF6 Specificity 100 % Genes 100 %
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 %
X-linked Non-Specific Intellectual Disability Panel. By Genetic Services Laboratory University of Chicago (United States). RPL10, RPS6KA3, SLC16A2, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS, CDKL5, SYN1, SYP, TSPAN7, MED12, UBE2A, ZNF41, ZNF711, ZNF81, FTSJ1, NSDHL, PCDH19 , (...) View the complete list with 59 more genes Panel complete gene list RPL10, RPS6KA3, SLC16A2, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS, CDKL5, SYN1, SYP, TSPAN7, MED12, UBE2A, ZNF41, ZNF711, ZNF81, FTSJ1, NSDHL, PCDH19, NLGN4X, NLGN3, ARHGEF9, CASK, RAB39B, BRWD3, ZNF674, ARX, PHF6, ATP6AP2, ZDHHC9, NAA10, ZDHHC15, UPF3B, CLIC2, PHF8, BCOR, CUL4B, OFD1, PTCHD1, DCX, MAGT1, CCDC22, FRMPD4, DLG3, IQSEC2, SHROOM4, NEXMIF, SRPX2, HUWE1, EIF2S3, AGTR2, ACSL4, FLNA, FMR1, AFF2, GDI1, GRIA3, HSD17B10, HCFC1, HPRT1, IGBP1, AP1S2, IL1RAPL1, KLF8, L1CAM, MAOA, ARHGEF6, MECP2, MID1, NHS, OCRL, OPHN1, PAK3, PDHA1, ATRX, PLP1, PQBP1, PRPS1 Specificity 2 % Genes 100 %
Mental retardation, X-linked type 46 (sequence analysis of ARHGEF6 gene). By CGC Genetics (Portugal). ARHGEF6 Specificity 100 % Genes 100 %
X-linked mental retardation (deletion/duplication analysis, multiple genes). By CGC Genetics (Portugal). RPS6KA3, SLC6A8, TSPAN7, ARX, DCX, HUWE1, AGTR2, ACSL4, FMR1, AFF2, GDI1, IL1RAPL1, ARHGEF6, OPHN1, PAK3, PQBP1 Specificity 7 % Genes 100 %
Mental retardation, X-linked (NGS panel for 89 genes). By CGC Genetics (Portugal). RPS6KA3, SLC16A2, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZNF711, ZNF81, FTSJ1, HDAC8 , (...) View the complete list with 69 more genes Panel complete gene list RPS6KA3, SLC16A2, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZNF711, ZNF81, FTSJ1, HDAC8, KIF4A, NSDHL, PCDH19, NLGN4X, ARHGEF9, CASK, MBTPS2, RAB39B, BRWD3, PORCN, ARX, PHF6, ATP6AP2, ZDHHC9, UPF3B, CLIC2, PHF8, BCOR, CUL4B, OFD1, DCX, DKC1, DLG3, IQSEC2, SHROOM4, DMD, NEXMIF, SRPX2, HUWE1, ACSL4, FANCB, FGD1, FLNA, FMR1, AFF2, GDI1, GK, GPC3, GRIA3, HSD17B10, HCCS, HCFC1, HPRT1, IDS, IGBP1, AP1S2, IL1RAPL1, ABCD1, L1CAM, LAMP2, MAOA, ARHGEF6, MECP2, MID1, MID2, NDP, NDUFA1, NHS, OCRL, OPHN1, OTC, PAK3, ATP7A, PDHA1, ATRX, PGK1, PLP1, PQBP1, PRPS1 Specificity 2 % Genes 100 %
X-Linked Intellectual Disability Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). RPL10, RPS6KA3, SLC16A2, SLC35A2, SLC6A8, SLC7A3, SLC9A6, SMC1A, KDM5C, SMS, SOX3, SSR4, CDKL5, SYN1, SYP, TAF1, TSPAN7, MED12, UBE2A, USP9X , (...) View the complete list with 107 more genes Panel complete gene list RPL10, RPS6KA3, SLC16A2, SLC35A2, SLC6A8, SLC7A3, SLC9A6, SMC1A, KDM5C, SMS, SOX3, SSR4, CDKL5, SYN1, SYP, TAF1, TSPAN7, MED12, UBE2A, USP9X, KDM6A, RNF113A, ZMYM3, ZNF711, FTSJ1, HDAC8, KIF4A, NSDHL, RLIM, USP27X, PCDH19, NLGN4X, NLGN3, ARHGEF9, CASK, MBTPS2, RAB39B, BCAP31, BRWD3, ARX, PHF6, ATP6AP2, TMLHE, ZDHHC9, NAA10, THOC2, CNKSR2, CLCN4, UPF3B, CLIC2, PHF8, BCOR, ZC4H2, CUL4B, BCORL1, LAS1L, MAP7D3, PTCHD1, FAAH2, DCX, H2BFWT, ZCCHC12, DDX3X, DKC1, CCDC22, WDR45, FRMPD4, DLG3, IQSEC2, SHROOM4, KLHL15, NEXMIF, DRP2, SRPX2, ALG13, HUWE1, EBP, EIF2S3, AGTR2, ACSL4, FGD1, FLNA, FMR1, AFF2, GDI1, GK, GPC3, GRIA3, HSD17B10, HCFC1, HMGB3, HNRNPH2, HPRT1, IDS, IGBP1, AP1S2, IL1RAPL1, ABCD1, KCNE5, L1CAM, LAMP2, MAGEA11, MAOA, ARHGEF6, MECP2, MID1, MID2, ARSE, ARSF, MSL3, NDP, NHS, NONO, OPHN1, OTC, PAK3, CDK16, AIFM1, PDHA1, ATRX, PGK1, PIGA, PLP1, POLA1, PQBP1, PRPS1, RBM10 Specificity 1 % Genes 100 %

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Sources and references

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OMIM MESH Rare Disease Symptoms Checker

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