Mental Retardation, X-linked 19; Mrx19

Table of contents:

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

Description

X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS ), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).

Genes related to Mental Retardation, X-linked 19; Mrx19

RPS6KA3

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Clinical Features

Top most frequent phenotypes and symptoms related to Mental Retardation, X-linked 19; Mrx19

Intellectual disability
Short stature
Generalized hypotonia
Scoliosis
Hypertelorism
Abnormal facial shape
Delayed speech and language development
Motor delay
Abnormality of the skeletal system
Intellectual disability, mild

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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 19; Mrx19 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 %
Coffin-Lowry syndrome. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RPS6KA3 Specificity 100 % Genes 100 %
Coffin-Lowry syndrome. By Center for Human Genetics, Inc (United States). RPS6KA3 Specificity 100 % Genes 100 %
Hearing Loss Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN , (...) View the complete list with 100 more genes Panel complete gene list RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN, CDH23, CACNA1D, ACTG1, PCDH15, DIAPH3, ANKH, ABHD12, SALL4, STRC, DTD1, USH1G, WHRN, OTOA, NLRP3, BSND, TMC1, TRIOBP, ADGRV1, CDKN1C, CCDC50, GIPC3, SLC17A8, CLDN14, CHD7, LHFPL5, ABHD5, DIABLO, COCH, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, SLC29A3, MYH14, CRYM, CISD2, CIB2, LRTOMT, PDZD7, MARVELD2, LOXHD1, TPRN, MSRB3, GRHL2, GSDME, ILDR1, DIAPH1, DLX5, GPSM2, PJVK, DNMT1, DSPP, TMIE, MIR96, GRXCR1, EDN3, EDNRB, CEACAM16, ESRRB, EYA1, EYA4, FGF3, FGFR3, FOXC1, FOXI1, GATA3, GJB2, GJB6, HGF, HSD17B4, KCNE1, KCNJ10, KCNQ1, KCNQ4, MASP1, MITF, ARSB, MT-RNR1, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, NDP, OTOF, ATP6V1B1, PAX3, SLC26A4, SERPINB6, PITX2, POU3F4, POU4F3, SLC26A5, PRPS1, PTPRQ, RDX Specificity 1 % Genes 100 %
X-Linked Intellectual Disabilities Deletion/Duplication. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X , (...) View the complete list with 68 more genes Panel complete gene list RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X, NLGN3, ARHGEF9, CASK, MBTPS2, RAB39B, BRWD3, PORCN, ARX, PHF6, ATP6AP2, ZDHHC9, NAA10, CNKSR2, ZDHHC15, UPF3B, CLIC2, PHF8, BCOR, CUL4B, OFD1, PTCHD1, DCX, DKC1, CCDC22, FRMPD4, DLG3, IQSEC2, SHROOM4, DMD, NEXMIF, HUWE1, ACSL4, FANCB, FGD1, FLNA, FMR1, AFF2, GDI1, GK, GPC3, GRIA3, HSD17B10, HCCS, HPRT1, IDS, IGBP1, AP1S2, IL1RAPL1, L1CAM, LAMP2, MAOA, MECP2, MID1, NDP, NDUFA1, NHS, OCRL, OPHN1, OTC, PAK3, ATP7A, PDHA1, ATRX, PGK1, PLP1, PQBP1, PRPS1, RBM10 Specificity 2 % Genes 100 %
X-linked Intellectual Disabilities Sequencing. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X , (...) View the complete list with 68 more genes Panel complete gene list RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X, NLGN3, ARHGEF9, CASK, MBTPS2, RAB39B, BRWD3, PORCN, ARX, PHF6, ATP6AP2, ZDHHC9, NAA10, CNKSR2, ZDHHC15, UPF3B, CLIC2, PHF8, BCOR, CUL4B, OFD1, PTCHD1, DCX, DKC1, CCDC22, FRMPD4, DLG3, IQSEC2, SHROOM4, DMD, NEXMIF, HUWE1, ACSL4, FANCB, FGD1, FLNA, FMR1, AFF2, GDI1, GK, GPC3, GRIA3, HSD17B10, HCCS, HPRT1, IDS, IGBP1, AP1S2, IL1RAPL1, L1CAM, LAMP2, MAOA, MECP2, MID1, NDP, NDUFA1, NHS, OCRL, OPHN1, OTC, PAK3, ATP7A, PDHA1, ATRX, PGK1, PLP1, PQBP1, PRPS1, RBM10 Specificity 2 % Genes 100 %
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X , (...) View the complete list with 67 more genes Panel complete gene list RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X, NLGN3, ARHGEF9, CASK, MBTPS2, RAB39B, BRWD3, PORCN, ARX, PHF6, ATP6AP2, ZDHHC9, NAA10, CNKSR2, ZDHHC15, UPF3B, CLIC2, PHF8, BCOR, CUL4B, OFD1, PTCHD1, DCX, DKC1, CCDC22, FRMPD4, DLG3, IQSEC2, SHROOM4, DMD, NEXMIF, HUWE1, FANCB, FGD1, FLNA, FMR1, AFF2, GDI1, GK, GPC3, GRIA3, HSD17B10, HCCS, HPRT1, IDS, IGBP1, AP1S2, IL1RAPL1, L1CAM, LAMP2, MAOA, MECP2, MID1, NDP, NDUFA1, NHS, OCRL, OPHN1, OTC, PAK3, ATP7A, PDHA1, ATRX, PGK1, PLP1, PQBP1, PRPS1, RBM10 Specificity 2 % 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 %

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Sources and references

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