Perlman Syndrome

Incidence and onset information

Alternative names

Perlman Syndrome Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor, nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome, renal hamartomas, nephroblastomatosis, and fetal gigantism.

Researches and researchers

Doctors, researchs, and experts related to Perlman Syndrome extracted from public data.

Perlman Syndrome Experts map

Current Researchs and researchers

• BIRMINGHAM — Pr Eamonn R MAHER

  Investigator of research project - Coordinator of research network
  
  

  • Institution/s:
    — University of Birmingham School of Medicine, Institute of Biomedical Research, University of Birmingham
    — Birmingham Women's NHS Foundation Trust
    — Addenbrooke's Hospital
  • Research area/topic::
    

    National Autozygosity Mapping Resource



• BIRMINGHAM — Ms Shanaz PASHA

  Coordinator of research network
  
  

  • Institution/s:
    — Birmingham Women's NHS Foundation Trust
  • Research area/topic::
    

    National Autozygosity Mapping Resource



• CAMBRIDGE — Pr Eamonn R MAHER

  Investigator of research project - Coordinator of research network
  
  

  • Institution/s:
    — University of Birmingham School of Medicine, Institute of Biomedical Research, University of Birmingham
    — Birmingham Women's NHS Foundation Trust
    — Addenbrooke's Hospital
  • Research area/topic::
    

    National Autozygosity Mapping Resource

Perlman Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CHOP Comprehensive Hereditary Cancer Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). RMRP, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, SH2D1A, SLC25A13, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, BUB1B, EPCAM, XPA, IKZF1, CBL , (...) View the complete list with 85 more genes Panel complete gene list RMRP, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, SH2D1A, SLC25A13, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, BUB1B, EPCAM, XPA, IKZF1, CBL, CDC73, HAX1, DICER1, ARID5B, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEBPE, DDX41, DOCK8, SBDS, BRIP1, RHBDF2, COL7A1, G6PC3, CYLD, SDHAF2, PALB2, DDB2, FLCN, DIS3L2, DKC1, EGFR, ELANE, ERCC2, ERCC3, ERCC4, ERCC5, ETV6, EXT1, EXT2, FAH, FANCA, FANCC, FANCG, FH, GATA2, GBA, ABCB11, ALK, GJB2, GPC3, HFE, HMBS, HRAS, APC, ITK, KIT, SMAD4, MAX, MEN1, MET, MLH1, MPL, MSH2, MSH6, MTAP, MUTYH, NBN, NF1, NF2, ATM, PAX5, PDGFRA, SERPINA1, AXIN2, PMS2, PHOX2B, POLD1, POLE, POLH, PRKAR1A, PRSS1, BAP1, PTCH1, PTEN, PTPN11, RAD51C, RAD51D, RB1, RECQL4, RET Close Specificity 1 % Genes 100 %
Perlman Syndrome (sequence analysis of DIS3L2 gene). By CGC Genetics (Portugal). DIS3L2 Specificity 100 % Genes 100 %
OncoRisk Plus (NGS panel for 89 genes). By CGC Genetics (Portugal). RUNX1, BLM, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCB1, STK11, BUB1B, EPCAM, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC , (...) View the complete list with 68 more genes Panel complete gene list RUNX1, BLM, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCB1, STK11, BUB1B, EPCAM, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC, NSD1, SUFU, CDC73, DICER1, CDH1, CDK4, CDKN1C, CDKN2A, CEBPA, SBDS, BRIP1, FANCL, FANCM, SLX4, FANCI, CYLD, SDHAF2, TMEM127, PALB2, DDB2, FLCN, DIS3L2, CEP57, ERCC2, ERCC3, ERCC4, ERCC5, EXT1, EXT2, EZH2, AIP, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FH, GATA2, ALK, GPC3, APC, KIT, SMAD4, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, ATM, PMS2, PHOX2B, PRF1, PRKAR1A, BAP1, PTCH1, PTEN, RAD51C, RAD51D, RB1, RECQL4, RET Close Specificity 2 % Genes 100 %
Cancer Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, SRP72, STK11, EPCAM, TERC, TERT, TP53, TRIP13, TSC1 , (...) View the complete list with 78 more genes Panel complete gene list RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, SRP72, STK11, EPCAM, TERC, TERT, TP53, TRIP13, TSC1, TSC2, VHL, WT1, XRCC2, SAMD9L, SUFU, KIF1B, CDC73, PALLD, DICER1, POT1, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, DDX41, GALNT12, GREM1, BRIP1, ARMC5, SDHAF2, TMEM127, PALB2, FLCN, DIS3L2, ANKRD26, ETV6, EXT1, EXT2, AIP, FANCC, FH, GATA2, ALK, GPC3, HOXB13, HRAS, APC, KIT, LZTR1, SMAD4, MAX, MEN1, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, ATM, NTHL1, PDGFRA, AXIN2, PMS2, PHOX2B, POLD1, POLE, PRKAR1A, BAP1, BARD1, PTCH1, PTCH2, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL, REST, RET Close Specificity 2 % Genes 100 %
Renal Cancer Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SDHA, SDHB, SDHC, SDHD, SMARCB1, EPCAM, TP53, TSC1, TSC2, VHL, WT1, CDC73, DICER1, FLCN, DIS3L2, FH, MET, MITF, MLH1, MSH2 , (...) View the complete list with 4 more genes Panel complete gene list SDHA, SDHB, SDHC, SDHD, SMARCB1, EPCAM, TP53, TSC1, TSC2, VHL, WT1, CDC73, DICER1, FLCN, DIS3L2, FH, MET, MITF, MLH1, MSH2, MSH6, PMS2, BAP1, PTEN Close Specificity 5 % Genes 100 %
Perlman Syndrome via DIS3L2 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). DIS3L2 Specificity 100 % Genes 100 %
Perlman syndrome. By Institute of Human Genetics Uniklinik RWTH Aachen (Germany). DIS3L2 Specificity 100 % Genes 100 %
Renal cell carcinoma. By Institute of Human Genetics Uniklinik RWTH Aachen (Germany). HNF1B, TSC1, TSC2, VHL, DICER1, CDKN1B, WT1-AS, FLCN, DIS3L2, MAX, MET Specificity 10 % Genes 100 %

Sources and references

You can check the following sources for additional information.

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