Thrombocytopenia With Congenital Dyserythropoietic Anemia

Incidence and onset information

Alternative names

Thrombocytopenia With Congenital Dyserythropoietic Anemia Is also known as congenital dyserythropoietic anemia with thombocytopenia, x-linked congenital dyserythropoietic anemia with thrombocytopenia, xdat.

Researches and researchers

Doctors, researchs, and experts related to Thrombocytopenia With Congenital Dyserythropoietic Anemia extracted from public data.

Thrombocytopenia With Congenital Dyserythropoietic Anemia Experts map

Current Researchs and researchers

• GREIFSWALD — Pr Ute FELBOR

  Coordinator of expert centre - Clinical expert - Clinical geneticist - Responsible for diagnostic tests - Investigator of research project - Director of laboratory - Director of department
  
  

  • Institution/s:
    — Universitätsmedizin Greifswald
    — Institut für Humangenetik der Universitätsmedizin Greifswald
    — Institut für Humangenetik der Universitätsmedizin Greifswald
  • Research area/topic::
    

    Mutational spectra and clinical manifestation in patients with congenital haemophilia



• GREIFSWALD — Dr Matthias RATH

  Responsible for diagnostic tests - Investigator of research project
  
  

  • Institution/s:
    — Institut für Humangenetik der Universitätsmedizin Greifswald
  • Research area/topic::
    

    Mutational spectra and clinical manifestation in patients with congenital haemophilia



• GREIFSWALD — Dr Winnie SCHRÖDER

  Responsible for diagnostic tests - Investigator of research project - Contact person of registry
  
  

  • Institution/s:
    — Institut für Humangenetik der Universitätsmedizin Greifswald
  • Research area/topic::
    

    Mutational spectra and clinical manifestation in patients with congenital haemophilia

Thrombocytopenia With Congenital Dyserythropoietic Anemia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-immune Hydrops Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...) View the complete list with 66 more genes Panel complete gene list RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9, CDAN1, KAT6B, ALG1, CHRNA1, CHRND, CHRNG, CANT1, KIAA0586, CLCNKA, CLCNKB, SUMF1, PEX26, FAT4, DHCR7, PIEZO1, WDR35, CCBE1, GNPTAB, FGFR3, FOXC2, G6PD, GALNS, GATA1, GBA, GBE1, GLA, GLB1, GUSB, HADHA, HADHB, HRAS, IDUA, FOXP3, KLF1, KIF23, KRAS, LBR, LIPA, LZTR1, MAP2K1, MAP2K2, MID1, KMT2D, ASAH1, MVK, NEU1, NPC1, NRAS, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PIGA, PKLR, PMM2, CTSA, PTH1R, PTPN11, PEX19, PEX5, RAF1, RASA1 Close Specificity 2 % Genes 100 %
Bone Marrow Failure. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). RPL11, RPL35A, RPL5, RPS10, RPS15, RPS19, RPS24, RPS26, RPS27A, RPS7, BRCA2, SRP72, TERT, THPO, TINF2, XRCC2, RPL36, NHP2, NOP10, SBDS , (...) View the complete list with 23 more genes Panel complete gene list RPL11, RPL35A, RPL5, RPS10, RPS15, RPS19, RPS24, RPS26, RPS27A, RPS7, BRCA2, SRP72, TERT, THPO, TINF2, XRCC2, RPL36, NHP2, NOP10, SBDS, BRIP1, FANCL, FANCM, SLX4, WRAP53, FANCI, USB1, PALB2, CTC1, DKC1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, GATA1, MPL, NBN, PRF1, RAD51C Close Specificity 3 % Genes 100 %
Platelet Disorders. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3 , (...) View the complete list with 34 more genes Panel complete gene list RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3, ANO6, ADRA2A, DHCR24, ANKRD26, MLPH, DPAGT1, NBEAL2, F8, FGA, FGB, FGG, FLNA, GATA1, GFI1B, GGCX, GNAQ, GNAS, GP1BA, HOXA11, HPS1, AP3B1, ITGA2, ITGA2B, ITGB3, KLKB1, A2M, MPL, MYH9, MYO5A, P2RX1, BLOC1S6, PLA2G7, PLAU, RAB27A Close Specificity 2 % Genes 100 %
MyeloidDx by NGS. By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States). RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA , (...) View the complete list with 32 more genes Panel complete gene list RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA, BCOR, ZRSR2, CSF3R, SMC3, CUX1, BCORL1, TET2, DNMT3A, ETV6, EZH2, FLT3, GATA1, GATA2, GNAS, HRAS, IDH1, IDH2, JAK2, JAK3, KIT, KRAS, MPL, MYD88, ABL1, NOTCH1, NPM1, NRAS, PDGFRA, ATRX, PTEN, PTPN11, RAD21 Close Specificity 2 % Genes 100 %
MyeloidDx by NGS. By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States). RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, CBLC, FBXW7, CDKN2A, PHF6, CEBPA , (...) View the complete list with 31 more genes Panel complete gene list RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, CBLC, FBXW7, CDKN2A, PHF6, CEBPA, BCOR, ZRSR2, CSF3R, SMC3, CUX1, BCORL1, DNMT3A, ETV6, EZH2, FLT3, GATA1, GATA2, GNAS, HRAS, IDH1, IDH2, JAK2, JAK3, KIT, KRAS, MPL, MYD88, ABL1, NOTCH1, NPM1, NRAS, PDGFRA, ATRX, PTEN, PTPN11, RAD21 Close Specificity 2 % Genes 100 %
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). RMRP, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1 , (...) View the complete list with 40 more genes Panel complete gene list RMRP, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1, NHP2, NOP10, VPS45, RTEL1, HAX1, SBDS, LYST, BRIP1, FANCL, VPS13B, FANCM, SLX4, CSF3R, G6PC3, WRAP53, FANCI, CXCR4, USB1, PALB2, DKC1, LAMTOR2, ELANE, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, SLC37A4, GATA1, GATA2, GFI1, AP3B1, MPL, RAB27A, RAC2, RAD51C, RBM8A Close Specificity 2 % Genes 100 %
Hemolytic Anemia Panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). RHAG, SEC23B, SLC2A1, SPTA1, SPTB, TPI1, XK, ATP11C, ABCG5, ABCG8, LPIN2, CDAN1, NT5C3A, COL4A1, C15orf41, PIEZO1, EPB41, EPB42, AK1, ALAS2 , (...) View the complete list with 16 more genes Panel complete gene list RHAG, SEC23B, SLC2A1, SPTA1, SPTB, TPI1, XK, ATP11C, ABCG5, ABCG8, LPIN2, CDAN1, NT5C3A, COL4A1, C15orf41, PIEZO1, EPB41, EPB42, AK1, ALAS2, G6PD, ALDOA, GATA1, GCLC, GPI, GPX1, GSS, GYPC, ANK1, HK1, KCNN4, KLF1, KIF23, PFKM, PGK1, PKLR Close Specificity 3 % Genes 100 %
Congenital Dyserythropoietic Anemia Panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). SEC23B, LPIN2, CDAN1, C15orf41, ALAS2, GATA1, KLF1, KIF23 Specificity 13 % Genes 100 %

Sources and references

You can check the following sources for additional information.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TRIGONOCEPHALY 1; TRIGNO1