Intellectual Disability-sparse Hair-brachydactyly Syndrome

Incidence and onset information

Alternative names

Intellectual Disability-sparse Hair-brachydactyly Syndrome Is also known as sparse hair and mental retardation, nbs, nicolaides-baraitser syndrome.

Researches and researchers

Doctors, researchs, and experts related to Intellectual Disability-sparse Hair-brachydactyly Syndrome extracted from public data.

Intellectual Disability-sparse Hair-brachydactyly Syndrome Experts map

Current Researchs and researchers

• DÜSSELDORF — Pr Dagmar WIECZOREK

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

  • Institution/s:
    — Universitätsklinikum Düsseldorf
    — Heinrich-Heine-Universität Düsseldorf
  • Research area/topic::
    

    CHROMATIN-Net: Intellectual disability (ID) and syndromic entities associated with mutations in the SWI/SNF complex



• ERLANGEN — Pr André REIS

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

  • Institution/s:
    — Humangenetisches Institut am Universitätsklinikum Erlangen
  • Research area/topic::
    

    CHROMATIN-Net: Network on cognitive impairment disorders with defective chromatin (coordination)



• ESSEN — Pr Bernhard HORSTHEMKE

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

  • Institution/s:
    — Universitätsklinikum Essen
    — Universitätsklinikum Essen
  • Research area/topic::
    

    CHROMATIN-Net: The nucleosome landscape of Coffin-Siris and Nicolaides-Baraitser syndrome patients with mutations in the SWI/SNF complex



• MÜNCHEN — Dr Tim M. STROM

  Responsible for diagnostic tests - Investigator of research project
  
  

  • Institution/s:
    — Helmholtz Zentrum München
  • Research area/topic::
    

    CHROMATIN-Net: Whole Genome Sequencing and Analysis



• 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::
    

    Causes of Nicolaides-Baraitser 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::
    

    Causes of Nicolaides-Baraitser 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::
    

    Causes of Nicolaides-Baraitser Syndrome

Intellectual Disability-sparse Hair-brachydactyly Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Syndromic Autism Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1 , (...) View the complete list with 63 more genes Panel complete gene list SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1, PCDH19, NLGN4X, NLGN3, SHANK3, ZEB2, CASK, SETBP1, ADNP, RAB39B, UBE3C, BCKDK, SYNE1, ARID1B, ARX, PHF6, TMLHE, SETD2, CHD8, MBD5, CHD7, TUBA1A, VPS13B, KIRREL3, NTNG1, CREBBP, EHMT1, SMC3, CTNNB1, PTCHD1, DHCR7, NIPBL, TBL1XR1, DYRK1A, FGD1, TMEM231, FMR1, FOLR1, FOXG1, FOXP1, ALDH5A1, GABRB3, GRIN2B, AMT, HOXA1, HPRT1, AP1S2, L1CAM, LAMC3, MECP2, MEF2C, MID1, NHS, NRXN1, OPHN1, PAFAH1B1, ATRX, PNKP, PQBP1, PTEN, PTPN11, RAD21, RAI1, RELN Close Specificity 2 % Genes 50 %
Coffin-Siris Syndrome Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, BTD, HDAC8, ADNP, ARID2, ARID1B, PHF6, ANKRD11, SMC3, PIGV, NIPBL, TBC1D24, HELLS, KMT2D , (...) View the complete list with 1 more genes Panel complete gene list SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, BTD, HDAC8, ADNP, ARID2, ARID1B, PHF6, ANKRD11, SMC3, PIGV, NIPBL, TBC1D24, HELLS, KMT2D, RAD21 Close Specificity 10 % Genes 100 %
Cornelia de Lange Syndrome PLUS Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). ROR2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, WNT5A, HDAC8, ADNP, ARID1B, PHF6, ANKRD11, CREBBP, SMC3, ESCO2, NIPBL, TBC1D24, EP300 , (...) View the complete list with 1 more genes Panel complete gene list ROR2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, WNT5A, HDAC8, ADNP, ARID1B, PHF6, ANKRD11, CREBBP, SMC3, ESCO2, NIPBL, TBC1D24, EP300, RAD21 Close Specificity 10 % Genes 100 %
Non-Specific Intellectual Disability Panel. By Genetic Services Laboratory University of Chicago (United States). RPS6KA3, CLIP1, SCN2A, ST3GAL3, SLC16A2, SLC25A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMS, SOX11, CDKL5, STXBP1, SYN1, SYNGAP1, SYP , (...) View the complete list with 153 more genes Panel complete gene list RPS6KA3, CLIP1, SCN2A, ST3GAL3, SLC16A2, SLC25A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMS, SOX11, CDKL5, STXBP1, SYN1, SYNGAP1, SYP, TAF2, TCF4, TSPAN7, MED12, UBE2A, UBE3A, EZR, VLDLR, ZNF41, ZNF711, ZNF81, FTSJ1, KIF4A, NSDHL, ERLIN2, CTCF, CA8, CNTNAP2, CACNG2, FMN2, PCDH19, NLGN4X, NLGN3, SHANK3, SHANK2, ARHGEF9, DEAF1, ZEB2, CASK, ADNP, PCNT, RAB39B, FBXO31, ZMYND11, BRWD3, CDH15, ZNF674, ARID1B, ARX, PHF6, ATP6AP2, ZDHHC9, NAA10, ZNF407, ZDHHC15, UPF3B, MBD5, L2HGDH, ZC3H14, CLIC2, PHF8, TUBA1A, BCOR, VPS13B, ALG6, KIRREL3, CRADD, MED23, EHMT1, CTNNB1, ADAT3, CUL4B, SETD5, OFD1, PGAP1, NSUN2, TTI2, PTCHD1, METTL23, DCX, D2HGDH, MAGT1, CCDC22, FRMPD4, DLG3, IQSEC2, DDHD2, WASHC4, SHROOM4, SOBP, ZNF526, NEXMIF, C12orf57, DYNC1H1, DNMT3A, PACS1, CRBN, CC2D1A, TUSC3, SRPX2, GATAD2B, TRAPPC9, HUWE1, DYRK1A, LINS1, SLC6A17, EIF2S3, EPB41L1, AGTR2, ACSL4, FLNA, FMR1, AFF2, FOXG1, FOXP1, ALDH5A1, GDI1, TECR, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, HSD17B10, HCFC1, ANK3, HPRT1, IDH2, IGBP1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, IL1RAPL1, KCNJ10, KLF8, KPTN, L1CAM, LRP2, MAN1B1, MAOA, ARHGEF6, MECP2, MEF2C, MID1, MID2, NDST1, NHS, NRXN1, NRXN2, OCRL, OPHN1, PAK3, PDHA1, ATRX, KIF1A, PLP1, PQBP1, PRPS1, PRSS12, PURA, RAI1 Close Specificity 1 % Genes 50 %
Coffin-Siris syndrome Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SOX11, ADNP, ARID1B, PHF6, ANKRD11, TBC1D24 Specificity 19 % Genes 100 %
Coffin-Siris syndrome Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SOX11, ADNP, ARID1B, PHF6, ANKRD11, TBC1D24 Specificity 19 % Genes 100 %
Cornelia de Lange PLUS Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). ROR2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, WNT5A, HDAC8, ADNP, AFF4, ARID1B, PHF6, ANKRD11, CREBBP, SMC3, ESCO2, NIPBL, TBC1D24 , (...) View the complete list with 2 more genes Panel complete gene list ROR2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, WNT5A, HDAC8, ADNP, AFF4, ARID1B, PHF6, ANKRD11, CREBBP, SMC3, ESCO2, NIPBL, TBC1D24, EP300, RAD21 Close Specificity 10 % Genes 100 %
AutismNext. By Ambry Genetics (United States). SCN2A, SLC6A8, SLC9A6, SMC1A, CDKL5, SYNGAP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, CACNA1C, NSD1, PCDH19, NLGN4X, NLGN3, SHANK3 , (...) View the complete list with 28 more genes Panel complete gene list SCN2A, SLC6A8, SLC9A6, SMC1A, CDKL5, SYNGAP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, CACNA1C, NSD1, PCDH19, NLGN4X, NLGN3, SHANK3, ZEB2, ADNP, RAB39B, ARID1B, POGZ, CHD2, CHD8, UPF3B, CHD7, ANKRD11, CREBBP, SMC3, KATNAL2, PTCHD1, DHCR7, NIPBL, DYRK1A, FMR1, FOXG1, FOXP1, GRIA3, GRIN2B, MECP2, MEF2C, NRXN1, PTEN, RAD21, RAI1 Close Specificity 3 % Genes 50 %

Sources and references

You can check the following sources for additional information.

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