Marshall-smith Syndrome

Incidence and onset information

Alternative names

Marshall-smith Syndrome Is also known as accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome.

Researches and researchers

Doctors, researchs, and experts related to Marshall-smith Syndrome extracted from public data.

Marshall-smith Syndrome Experts map

Current Researchs and researchers

• AMSTERDAM — Pr R.C. [Raoul] HENNEKAM

  Clinical expert - Investigator of research project - Researcher
  
  

  • Institution/s:
    — Clinical Genetics Department, Level 4, York House, University College London Hospitals, NHS Foundation Trust
    — Emma Kinderziekenhuis, Amsterdam UMC, locatie AMC
    — UMCG - Universitair Medisch Centrum Groningen
  • Research area/topic::
    

    Genetic studies in Marshall-Smith Syndrome



• GRONINGEN — Pr R.C. [Raoul] HENNEKAM

  Clinical expert - Investigator of research project - Researcher
  
  

  • Institution/s:
    — Clinical Genetics Department, Level 4, York House, University College London Hospitals, NHS Foundation Trust
    — Emma Kinderziekenhuis, Amsterdam UMC, locatie AMC
    — UMCG - Universitair Medisch Centrum Groningen
  • Research area/topic::
    

    Genetic studies in Marshall-Smith Syndrome



• LONDON — Pr R.C. [Raoul] HENNEKAM

  Clinical expert - Investigator of research project - Researcher
  
  

  • Institution/s:
    — Clinical Genetics Department, Level 4, York House, University College London Hospitals, NHS Foundation Trust
    — Emma Kinderziekenhuis, Amsterdam UMC, locatie AMC
    — UMCG - Universitair Medisch Centrum Groningen
  • Research area/topic::
    

    Genetic studies in Marshall-Smith Syndrome



• LONDON — Dr Adam SHAW

  Clinical expert - Investigator of research project
  
  

  • Institution/s:
    — 7th floor, Borough Wing, Guy's Hospital
    — UCL Institute of Child Health, University College London
  • Research area/topic::
    

    Genetic studies in Marshall-Smith Syndrome

Marshall-smith Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Overgrowth/Macrocephaly Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). MED12, NSD1, CDKN1C, PHF6, UPF3B, RNF135, CUL4B, DNMT3A, EZH2, GLI3, GPC3, NFIX, PTCH1, PTEN Specificity 8 % Genes 50 %
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 50 %
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 50 %
Macrocephaly Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). MED12, NSD1, RAB39B, BRWD3, SETD2, RIN2, UPF3B, TBC1D7, RNF125, RNF135, CUL4B, OFD1, HEPACAM, EZH2, GLI3, GPC3, HERC1, KPTN, NFIA, NFIX , (...) View the complete list with 1 more genes Panel complete gene list MED12, NSD1, RAB39B, BRWD3, SETD2, RIN2, UPF3B, TBC1D7, RNF125, RNF135, CUL4B, OFD1, HEPACAM, EZH2, GLI3, GPC3, HERC1, KPTN, NFIA, NFIX, PTEN Close Specificity 5 % Genes 50 %
NFIX sequencing. By Genetic Services Laboratory University of Chicago (United States). NFIX Specificity 100 % Genes 50 %
NFIX sequencing. By Genetic Services Laboratory University of Chicago (United States). NFIX Specificity 100 % Genes 50 %
Macrocephaly Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). MED12, NSD1, RAB39B, BRWD3, SETD2, RIN2, UPF3B, TBC1D7, RNF125, RNF135, CUL4B, OFD1, HEPACAM, EZH2, GLI3, GPC3, HERC1, KPTN, NFIA, NFIX , (...) View the complete list with 1 more genes Panel complete gene list MED12, NSD1, RAB39B, BRWD3, SETD2, RIN2, UPF3B, TBC1D7, RNF125, RNF135, CUL4B, OFD1, HEPACAM, EZH2, GLI3, GPC3, HERC1, KPTN, NFIA, NFIX, PTEN Close Specificity 5 % Genes 50 %
NFIX. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). NFIX Specificity 100 % Genes 50 %

Sources and references

You can check the following sources for additional information.

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