Fraser Syndrome

Incidence and onset information

Alternative names

Fraser Syndrome Is also known as cryptophthalmos-syndactyly syndrome.

Researches and researchers

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

Fraser Syndrome Experts map

Current Researchs and researchers

• MAGDEBURG — Pr Martin ZENKER

  Coordinator of expert centre - Clinical expert - Investigator of research project - Manager of registry - Coordinator of research network - Director of department
  
  

  • Institution/s:
    — Universitätsklinikum Magdeburg A.ö.R
    — Universitätsklinikum Magdeburg A.ö.R
  • Research area/topic::
    

    Fraser syndrome: mutation search and genotype-phenotype correlation

Fraser Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Abnormal/Ambiguous Genitalia Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...) View the complete list with 52 more genes Panel complete gene list ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C, ARX, GRIP1, FRAS1, SCARF2, B3GLCT, CHD7, BCOR, ICK, RSPO1, WDR60, FEZF1, FAT4, CREBBP, TCTN3, FREM2, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, ESCO2, CCNQ, DHCR24, DHCR7, DHH, SPECC1L, DYNC2H1, DNMT3B, NSMF, AKR1C2, GATA4, KISS1R, HCCS, RIPK4, HOXA13, HSD17B3, HSD3B2, IRF6, ANOS1, AR, LHCGR, LMNA, MAP3K1, MKKS, MKS1, NEK1, NR0B1, NR5A1, OPHN1, ATRX, POR, PTPN11 Close Specificity 5 % Genes 100 %
Hypospadias Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2 , (...) View the complete list with 41 more genes Panel complete gene list SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2, B3GLCT, BCOR, CUL7, FAT4, CREBBP, FREM2, MAMLD1, CYP11A1, TMEM70, ESCO2, DHCR7, SPECC1L, WDR35, EPG5, DNMT3B, EFNB1, EVC, FGF10, FGFR1, FGFR2, FGFR3, FLNA, GLI3, GPC3, HBA1, HCCS, HOXA13, HSD3B2, IRF6, AR, MAP3K1, MID1, MKKS, NR5A1, PDE4D, PEX1, ATRX, PITX2, PTDSS1, PTPN11, RBBP8 Close Specificity 5 % Genes 100 %
FREM. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). FREM2 Specificity 100 % Genes 34 %
FREM2-Related Fraser Syndrome. By CGC Genetics (Portugal). FREM2 Specificity 100 % Genes 34 %
Fraser syndrome (sequence analysis of FREM2 gene). By CGC Genetics (Portugal). FREM2 Specificity 100 % Genes 34 %
Fraser Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). GRIP1, FRAS1, FREM1, FREM2 Specificity 75 % Genes 100 %
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). ROBO2, SALL1, BMP4, BMP7, SIX1, SIX2, SIX5, SOX11, TBX18, HNF1B, UMOD, UPK3A, WNT4, TRAP1, SRGAP1, CDC5L, SOX17, HPSE2, GRIP1, CHD1L , (...) View the complete list with 27 more genes Panel complete gene list ROBO2, SALL1, BMP4, BMP7, SIX1, SIX2, SIX5, SOX11, TBX18, HNF1B, UMOD, UPK3A, WNT4, TRAP1, SRGAP1, CDC5L, SOX17, HPSE2, GRIP1, CHD1L, FRAS1, FAT4, FREM1, FREM2, NIPBL, DSTYK, GREB1L, AGTR1, EYA1, FGF20, FGFR2, FOXP1, GATA3, GLI2, GLI3, HOXA13, HOXA4, HOXB6, ITGA8, LIFR, LRP4, MUC1, MYH9, PAX2, PBX1, REN, RET Close Specificity 7 % Genes 100 %
Hypospadias Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SALL1, BMP4, BMP7, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, WDR11, ZEB2, SETBP1, TP63, PCNT, ZFPM2, UBR1, FIG4, CDKN1C, ARX , (...) View the complete list with 53 more genes Panel complete gene list SALL1, BMP4, BMP7, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, WDR11, ZEB2, SETBP1, TP63, PCNT, ZFPM2, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2, B3GLCT, BCOR, CUL7, ICK, CREBBP, FREM2, MAMLD1, CYP11A1, TMEM70, ESCO2, DHCR7, SPECC1L, WDR35, EPG5, DNMT3B, BNC2, EFNB1, EVC, FGF10, FGF8, FGFR1, FGFR2, FGFR3, FLNA, GATA4, GLI3, GNRHR, GPC3, HBA1, HCCS, HOXA13, HOXA4, HOXB6, HSD17B3, HSD3B2, IRF6, AR, MAP3K1, MID1, MKKS, ATF3, NR5A1, PDE4D, PEX1, ATRX, PITX2, POR, PTDSS1, PTPN11, RBBP8 Close Specificity 5 % Genes 100 %

Sources and references

You can check the following sources for additional information.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL; CMS4B HYPOPLASTIC LEFT HEART SYNDROME 2; HLHS2 LYMPHOMA, NON-HODGKIN, FAMILIAL CEREBROTENDINOUS XANTHOMATOSIS; CTX EPISODIC ATAXIA, TYPE 6; EA6 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3; IIAE3 CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION