Isolated Trigonocephaly

Incidence and onset information

Alternative names

Isolated Trigonocephaly Is also known as non-syndromic metopic craniosynostosis.

Researches and researchers

Doctors, researchs, and experts related to Isolated Trigonocephaly extracted from public data.

Isolated Trigonocephaly Experts map

Current Researchs and researchers

• ROTTERDAM — Pr I.M.J. [Irene] MATHIJSSEN

  Coordinator of expert centre - Investigator of research project - Coordinator of expert centre network
  
  

  • Institution/s:
    — Sophia Kinderziekenhuis, Erasmus MC - Erasmus Medisch Centrum
  • Research area/topic::
    

    Metopic suture synostosis (trigonocephaly): prenatal detection, brain functions and optimal treatment

Isolated Trigonocephaly Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Anophthalmia/microphthalmia. By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark). BMP4, SIX6, SOX2, TFAP2A, VAX1, ALX1, PORCN, MFRP, RAX, VSX2, BCOR, COL4A1, FREM1, CRYBA4, TENM3, STRA6, FOXE3, PRSS56, ALDH1A3, GDF3 , (...) View the complete list with 9 more genes Panel complete gene list BMP4, SIX6, SOX2, TFAP2A, VAX1, ALX1, PORCN, MFRP, RAX, VSX2, BCOR, COL4A1, FREM1, CRYBA4, TENM3, STRA6, FOXE3, PRSS56, ALDH1A3, GDF3, GDF6, GJA1, GLI3, ABCB6, HCCS, NHS, OTX2, PAX2, RARB Close Specificity 4 % Genes 50 %
Craniosynostosis. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States). RUNX2, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, CDC45, ASXL1, WDR19, FREM1, WDR35, IFT43, EFNB1, MEGF8, ERF, FGFR1, FGFR2 , (...) View the complete list with 7 more genes Panel complete gene list RUNX2, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, CDC45, ASXL1, WDR19, FREM1, WDR35, IFT43, EFNB1, MEGF8, ERF, FGFR1, FGFR2, FGFR3, GLI3, IL11RA, SMAD6, MSX2, POR, RECQL4 Close Specificity 8 % Genes 100 %
FREM1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). FREM1 Specificity 100 % Genes 50 %
Trigonocephaly 2 (sequence analysis of FREM1 gene). By CGC Genetics (Portugal). FREM1 Specificity 100 % Genes 50 %
Craniosynostosis (NGS panel for 30 genes). By CGC Genetics (Portugal). BMP4, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, IFT122, RAB23, IRX5, TMCO1, WDR19, SCARF2, FREM1, IMPAD1, ESCO2, IFT140, WDR35, EFNB1, MEGF8, ERF , (...) View the complete list with 10 more genes Panel complete gene list BMP4, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, IFT122, RAB23, IRX5, TMCO1, WDR19, SCARF2, FREM1, IMPAD1, ESCO2, IFT140, WDR35, EFNB1, MEGF8, ERF, FGFR1, FGFR2, FGFR3, GLI3, ALPL, ALX4, IL11RA, MASP1, POR, RECQL4 Close Specificity 7 % Genes 100 %
Microphthalmia (NGS panel for 26 genes). By CGC Genetics (Portugal). BMP4, SHH, SIX6, SOX2, VAX1, MFRP, RAX, NAA10, VSX2, SMOC1, CHD7, BCOR, FREM1, TENM3, STRA6, PRSS56, ALDH1A3, GDF3, GDF6, ABCB6 , (...) View the complete list with 6 more genes Panel complete gene list BMP4, SHH, SIX6, SOX2, VAX1, MFRP, RAX, NAA10, VSX2, SMOC1, CHD7, BCOR, FREM1, TENM3, STRA6, PRSS56, ALDH1A3, GDF3, GDF6, ABCB6, HCCS, HMGB3, MAB21L2, MITF, OTX2, RARB Close Specificity 4 % Genes 50 %
MOTA syndrome (sequence analysis of FREM1 gene). By CGC Genetics (Portugal). FREM1 Specificity 100 % Genes 50 %
Fraser Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). GRIP1, FRAS1, FREM1, FREM2 Specificity 25 % Genes 50 %

Sources and references

You can check the following sources for additional information.

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