Capillary Malformation-arteriovenous Malformation

Incidence and onset information

Alternative names

Capillary Malformation-arteriovenous Malformation Is also known as cm-avm.

Researches and researchers

Doctors, researchs, and experts related to Capillary Malformation-arteriovenous Malformation extracted from public data.

Capillary Malformation-arteriovenous Malformation Experts map

Current Researchs and researchers

• LONDON — Dr Edmund JESSOP

  Coordinator of research network
  
  

  • Institution/s:
    — Department of Health
  • Research area/topic::
    

    RASopathy network: disorders of the Ras-MAPK pathway

Capillary Malformation-arteriovenous Malformation 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 34 %
NGS Vascular Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SOX18, TEK, VEGFC, GLMN, KRIT1, STAMBP, GJC2, ACVRL1, CCM2, CCBE1, ENG, FLT4, FOXC2, GATA2, GDF2, KIF11, SMAD4, PDCD10, PTEN, PTPN14 , (...) View the complete list with 1 more genes Panel complete gene list SOX18, TEK, VEGFC, GLMN, KRIT1, STAMBP, GJC2, ACVRL1, CCM2, CCBE1, ENG, FLT4, FOXC2, GATA2, GDF2, KIF11, SMAD4, PDCD10, PTEN, PTPN14, RASA1 Close Specificity 10 % Genes 67 %
Hereditary Hemorrhagic Telangiectasia Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). ACVRL1, ENG, GDF2, SMAD4, RASA1 Specificity 20 % Genes 34 %
Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). ACVRL1, ENG, GDF2, SMAD4, RASA1 Specificity 20 % Genes 34 %
Capillary Malformation-Arteriovenous Malformation (CM-AVM). By Institute of Human Genetics Uniklinik RWTH Aachen (Germany). RASA1 Specificity 100 % Genes 34 %
RASA1. By Institute for Human Genetics University Clinic Freiburg (Germany). RASA1 Specificity 100 % Genes 34 %
RASA1-Related Disorders (RASA1) Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics (United States). RASA1 Specificity 100 % Genes 34 %
RASA1-Related Disorders (RASA1) Sequencing and Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics (United States). RASA1 Specificity 100 % Genes 34 %

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 VISCERAL MYOPATHY; VSCM LAURIN-SANDROW SYNDROME; LSS ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBSMP CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O; CMT2O