Megalencephaly-capillary Malformation-polymicrogyria Syndrome

Incidence and onset information

Alternative names

Megalencephaly-capillary Malformation-polymicrogyria Syndrome Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome, macrocephaly-capillary malformation syndrome, mcmtc, mcap, megalencephaly-capillary malformation syndrome, macrocephaly-cutis marmorata telangiectatica congenita syndrome, mcm.

Researches and researchers

Doctors, researchs, and experts related to Megalencephaly-capillary Malformation-polymicrogyria Syndrome extracted from public data.

Megalencephaly-capillary Malformation-polymicrogyria Syndrome Experts map

Current Researchs and researchers

• DIJON — Ms Virginie CARMIGNAC

  Responsible for diagnostic tests - Investigator of research project
  
  

  • Institution/s:
    — CHU de Dijon - Plateau technique de Biologie
  • Research area/topic::
    

    Unraveling the genetic basis of mutation-negative mosaic overgrowth syndromes through deep whole exome sequencing



• DIJON — Dr Jean-Baptiste RIVIERE

  Investigator of research project
  
  

  • Institution/s:
    — CHU de Dijon - Plateau technique de Biologie
    — Université de Bourgogne
  • Research area/topic::
    

    MOSAIC: A genomic approach to identify postzygotic mutations in mosaic developmental diseases involving the skin



• MADRID — Dr Víctor MARTÍNEZ-GLEZ

  Clinical expert - Investigator of research project - Director of laboratory
  
  

  • Institution/s:
    — INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
    — INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
  • Research area/topic::
    

    PIK3CA Overgrowth Syndromes: Diagnosis, Phenotype and Clinical Guidelines

Megalencephaly-capillary Malformation-polymicrogyria Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Brain Malformation Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19 , (...) View the complete list with 86 more genes Panel complete gene list SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19, TMEM237, ZEB2, CASK, TSEN34, ARFGEF2, PCNT, RAB3GAP1, CDON, RAB3GAP2, CENPJ, EXOSC3, FKRP, ARX, PHF6, IER3IP1, CDK5RAP2, ASPM, POMGNT1, DISP1, POMT2, UPF3B, TUBA1A, TUBB3, RARS2, AHI1, COL4A1, KIF1BP, WDR62, TMEM216, ARL13B, CUL4B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, TMEM138, DCX, TSEN54, TMEM67, TSEN2, DHCR7, NIPBL, CEP290, DLL1, RPGRIP1L, CC2D2A, CEP152, KIF7, SRPX2, TUBB2B, EMX2, EOMES, EZH2, FKTN, FGF8, FLNA, FOXG1, FOXH1, GAS1, GLI2, GLI3, ADGRG1, HESX1, L1CAM, LAMC3, LARGE1, MCPH1, MECP2, MKS1, MYCN, NFIX, NODAL, NPHP1, OPHN1, OTX2, PAFAH1B1, ATR, ATRX, PIK3CA, POMT1, PQBP1, PTCH1, PTEN, RBBP8, RELN Close Specificity 1 % Genes 100 %
Macrocephaly. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). MED12, NSD1, PHF6, UPF3B, CUL4B, EZH2, GLI3, NFIX, PIK3CA, PTCH1, PTEN Specificity 10 % Genes 100 %
PIK3CA sequence analysis (Somatic). By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States). PIK3CA Specificity 100 % Genes 100 %
Somatic Overgrowth Gene Panel. By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States). AKT1, AKT2, AKT3, MTOR, GNA11, GNAQ, PIK3CA, PIK3R2 Specificity 13 % Genes 100 %
PIK3CA Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). PIK3CA Specificity 100 % Genes 100 %
Hereditary Thyroid Cancer Panel. By Genetic Services Laboratory University of Chicago (United States). SDHB, SDHD, TP53, WRN, DICER1, SRGAP1, AKT1, APC, PIK3CA, PRKAR1A, PTEN, RET Specificity 9 % Genes 100 %
PIK3CA. By Institute for Human Genetics University Clinic Freiburg (Germany). PIK3CA Specificity 100 % Genes 100 %
Vascular Malformations NGS Multi-Gene Panel (21 Genes). By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands). BMPR2, SOX18, TEK, GLMN, CAV1, KRIT1, ACVRL1, DOCK6, ANTXR1, CCM2, ENG, GDF2, GNAQ, KCNK3, KDR, SMAD4, MAP3K3, PDCD10, PIK3CA, PTEN , (...) View the complete list with 1 more genes Panel complete gene list BMPR2, SOX18, TEK, GLMN, CAV1, KRIT1, ACVRL1, DOCK6, ANTXR1, CCM2, ENG, GDF2, GNAQ, KCNK3, KDR, SMAD4, MAP3K3, PDCD10, PIK3CA, PTEN, RASA1 Close Specificity 5 % Genes 100 %

Sources and references

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