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513 Possible Causes for RIT1

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  • Noonan Syndrome

    Related Gene(s): BRAF, CBL, HRAS, KRAS, NRAS, MAP2K1, MAP2K2, PTPN11, NF1, RAF, RIT1, SHOC2, SOS1, SPRED1 Spectrum Disorders, or RASopathies, are genetically heterogeneous[sema4genomics.com] These genes are included in CENTOGENE s Noonan - CFC syndrome panel (BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, SHOC2, SOS1[centogene.com] Further evidence of the importance of RIT1 in Noonan syndrome. Am. J. Med. Genet. A. 2014; 164A(11):2952-7. doi: 10.1002/ajmg.a.36722.[invitae.com]

  • Noonan Syndrome-Like Disorder with Juvenile Myelomonocytic Leukemia

    Hence, RIT1 mutations should be present at most in 2% of ALL. Discussion RIT1 has recently emerged as a new player in NS.[nature.com] Recently a new gene called RIT1 has been discovered as one of responsible genes.[flipper.diff.org] Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. Am J Hum Genet. 2013;93(1):173–80.[link.springer.com]

  • Neurofibromatosis-Noonan Syndrome

    These genes are included in CENTOGENE s Noonan - CFC syndrome panel (BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, SHOC2, SOS1[centogene.com] NS4) SOS1 [HSA: 6654 ] [KO: K03099 ] (NS5/LPRD2) RAF1 [HSA: 369 ] [KO: K08845 ] (NS6) NRAS [HSA: 4893 ] [KO: K07828 ] (NS7/LPRD3/CFC1) BRAF [HSA: 673 ] [KO: K04365 ] (NS8) RIT1[genome.jp] Gain-Offunction Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome. American Journal of Human Genetics 93: 173–180.[link.springer.com]

  • Baraitser Syndrome

    Forms and Documents Test Details Genes: A2ML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1[genedx.com] Further evidence of the importance of RIT1 in Noonan syndrome. Am. J. Med. Genet. A. 2014; 164A(11):2952-7. doi: 10.1002/ajmg.a.36722.[invitae.com] PTPN11 Noonan syndrome type 3 KRAS Noonan syndrome type 4 SOS1 Noonan syndrome type 5 RAF1 Noonan syndrome type 6 NRAS Noonan syndrome type 7 BRAF Noonan syndrome type 8 RIT1[centogene.com]

  • Disorder of Sex Development - Intellectual Disability Syndrome

    Multiple gene diagnostics: Noonan syndrome / RASopathy (A2ML1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SOS1, SHOC2, SPRED1) Single gene diagnostics[genomediagnosticsnijmegen.nl]

  • Familial Hypertrophic Cardiomyopathy Type 21

    MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MURC, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NRAS, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1[genedx.com] Add-on RASopathy Genes A2ML1 BRAF CBL HRAS KRAS MAP2K1 MAP2K2 NF1 NRAS PTPN11 RAF1 RASA1 RIT1 RRAS SHOC2 SOS1 SOS2 SPRED1 Structural heart defects or hypertrophic cardiomyopathy[invitae.com] RAF1 gene Noonan syndrome 4 Sanger Seq.of the 7, 11 and 17 exons of the SOS1 gene Noonan syndrome 4 Sequencing of the SOS1 gene Noonan Syndrome 8 Sanger sequencing of the RIT1[pentacorelab.hu]

  • Noonan Syndrome with Multiple Lentigines

    Panel Forms and Documents Test Details Genes: A2ML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1[genedx.com] These genes are included in CENTOGENE s Noonan - CFC syndrome panel (BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, SHOC2, SOS1[centogene.com] Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. Between 50 and 70 percent of individuals with Noonan syndrome have short stature.[bestpdffromsarah.top]

  • Primary Ciliary Dyskinesia 18

    -5, NKX2-6, NME8, NODAL, NOTCH1, NPHP3, NPPA, NR2F2, NRAS, NSD1, OFD1, PCSK9, PDLIM3, PKP2, PLN, PLOD1, PRDM16, PRKAG2, PRKG1, PSEN2, PTPN11, RAF1, RANGRF, RASA1, RBM20, RIT1[medgen.com.pk] SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2 Noonan Syndrome 努南综合征* 20 A2ML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1[fulgent.com.cn] , RSPH3, RSPH4A, RSPH9, SPAG1, ZMYND10 Rasopathien (Noonan-Syndrom, Neurofibormatose Typ 1) BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA1, RASA2, RIT1[meduniwien.ac.at]

  • Young Simpson Syndrome

    Forms and Documents Test Details Genes: A2ML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1[genedx.com] […] p21 protein activator 2 RASA2 601589 9872 RAS related related RAS viral (r-ras) oncogene homolog RRAS 0 165090 10447 ras-like without CAAX 1 MGC125864 MGC125865 RIBB ROC1 RIT1[ukgtn.nhs.uk]

  • Short stature-Valvular Heart Disease-Characteristic Facies Syndrome

    […] for Hereditary Gingival Neurofibromatosis type 1 Noonan syndromes Noonan syndrome (NS) 1:1,000 to 1:2,500 Mutations: CBL, BRAF, KRAS, MAP2K1 (MEK1), NRAS, PTPN11, RAF1, RIT1[rasopathiesnet.org] Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S, Watanabe Y, Ogura T, Matsubara Y. (2013) Gain-of-Function Mutations in RIT1[personalizedmedicine.partners.org] NOONAN SYNDROME Complete panel includes sequence analysis of PTPN11 , SOS1 , KRAS , NRAS , RAF1 , BRAF , CBL , SOS2 , RIT1 , LZTR1 , and SHOC2 pathogenic variant analysis.[chginc.org]

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