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405 Possible Causes for ARG4187CYS, HUWE1

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  • Brooks Wisniewski Brown Syndrome

    A third family was also found to have a novel HUWE1 mutation.[bmjopen.bmj.com] Child Neurol.. 2018 Aug 09 HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.[doximity.com] Table 1 Comparison of findings in families with missense mutations and duplications of HUWE1 * Figure 1 Pedigrees of families with HUWE1 mutations.[bmjopen.bmj.com]

    Missing: ARG4187CYS
  • Chronic Myelomonocytic Leukemia

    Newly identified recurrent mutations were in PHF6, DOCK2, NF1, ABCC9, HUWE1, and ASXL2.[lih.lu]

    Missing: ARG4187CYS
  • Kabuki Syndrome

    […] analysis revealed a pathogenic CNV in the 14q11.2 region, while targeted exome sequencing revealed pathogenic variants in genes associated with intellectual disability (HUWE1[ncbi.nlm.nih.gov] CLCN4, CNTNAP2, CREBBP, CSNK2A1, CTCF, CTNNB1, CTNND2, DDX3X, DHCR7, DNMT3A, DYNC1H1, DYRK1A, EFTUD2, EHMT1, EP300, FOXG1, FOXP1, GATAD2B, GNAO1, GPC3, GRIA3, GRIN1, GRIN2B, HUWE1[genedx.com]

    Missing: ARG4187CYS
  • Congenital Neutropenia

    (ELANE); (ii) mild to moderate benign intermittent neutropenia, detected later, and associated with mutations in genes implicated in neurodevelopmental disorders (CHD2, HUWE1[ncbi.nlm.nih.gov]

    Missing: ARG4187CYS
  • Rubinstein-Taybi Syndrome

    CLCN4, CNTNAP2, CREBBP, CSNK2A1, CTCF, CTNNB1, CTNND2, DDX3X, DHCR7, DNMT3A, DYNC1H1, DYRK1A, EFTUD2, EHMT1, EP300, FOXG1, FOXP1, GATAD2B, GNAO1, GPC3, GRIA3, GRIN1, GRIN2B, HUWE1[genedx.com]

    Missing: ARG4187CYS
  • X-Linked Syndromic Mental Retardation 11

    Froyen G , et al. (2008) No - 2 Support Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.[gene.sfari.org] Cornelia de Lange syndrome 5 HMGB3 Microphthalmia, syndromic 13 HNRNPH2 Mental retardation, X-linked, Bain type HPRT1 Lesch-Nyhan syndrome HSD17B10 Mental retardation, X-linked HUWE1[preventiongenetics.com] […] retardation, autosomal dominant type 13 DYNC1H1 Mental retardation, truncal obesity, retinal dystrophy, and micropenis INPP5E Mental retardation, X-linked syndromic, Turner type HUWE1[centogene.com]

    Missing: ARG4187CYS
  • X-Linked Intellectual Disability Type Turner

    Froyen G , et al. (2008) No - 2 Support Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.[gene.sfari.org] A third family was also found to have a novel HUWE1 mutation.[bmjopen.bmj.com] […] of HUWE1 -related XLID in an individual in whom sequence analysis was negative.[egl-eurofins.com]

    Missing: ARG4187CYS
  • X-Linked Syndromic Mental Retardation Type Chudley-Schwartz

    A third family was also found to have a novel HUWE1 mutation.[bmjopen.bmj.com] Submicroscopic duplications of thehydroxysteroid dehydrogenase HSD17B10 and the E3 ubiq-uitin ligase HUWE1 are associated with mental retardation.Am. J. Hum.[docslide.com.br] Table 1 Comparison of findings in families with missense mutations and duplications of HUWE1 * Figure 1 Pedigrees of families with HUWE1 mutations.[bmjopen.bmj.com]

    Missing: ARG4187CYS
  • Autosomal Recessive Mental Retardation 44

    , ATP6AP2, CASK, CUL4B, RAB39B, ZEB2, VPS13B, SHANK3, SHANK2, PRPS1, PTCHD1, ADNP, MID1, MED12, KIRREL3, FOXP1, EHMT1, AP1S2, ARID1B, CTNNB1, NLGN4X, NLGN3, PHF8, IGBP1, HUWE1[mendelian.co] GRIN1, TCF4, CNTNAP2, ATRX, IQSEC2, FGD1, GRIA3, ARHGEF9, PAK3, KDM5C, OPHN1, CUL4B, RAB39B, SETBP1, SHANK3, PTCHD1, ADNP, KIRREL3, AP1S2, TBR1, ARID1B, CTNNB1, NLGN4X, HUWE1[mendelian.co] FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, TBR1, TMEM231, ARID1B, CTNNB1, NLGN4X, NLGN3, LZTR1, KIAA0586, PEX13, PEX26, PEX10, PEX12, PEX5, KAT6B, MVK, NEU1, CCBE1, PHF8, HUWE1[mendelian.co]

    Missing: ARG4187CYS
  • X-linked Intellectual Disability Type Abidi

    A third family was also found to have a novel HUWE1 mutation.[bmjopen.bmj.com] (submitted) Juberg‐Marsidi syndrome and Brooks syndrome are allelic X‐linked intellectual disability syndrome due to a single mutation (p.G4310R) in HUWE1.[els.net] Submicroscopic duplications of thehydroxysteroid dehydrogenase HSD17B10 and the E3 ubiq-uitin ligase HUWE1 are associated with mental retardation.Am. J. Hum.[documents.tips]

    Missing: ARG4187CYS

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