Seckel Syndrome 9; Sckl9

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Seckel Syndrome 9; Sckl9

TRAIP

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Seckel Syndrome 9; Sckl9

Global developmental delay
Short stature
Microcephaly
Growth delay
Failure to thrive
Micrognathia
Low-set ears
Intrauterine growth retardation
Ventricular septal defect
Talipes equinovarus

And another 29 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Seckel Syndrome 9; Sckl9 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Seckel Syndrome Panel. By Genetic Services Laboratory University of Chicago (United States). NIN, PCNT, CENPJ, CEP63, CEP152, DNA2, TRAIP, LIG4, ATR, RBBP8 Specificity 10 % Genes 100 %
Comprehensive Primordial Dwarfism Panel. By Genetic Services Laboratory University of Chicago (United States). PLK4, XRCC4, CRIPT, PCNT, ORC6, CENPJ, CDC6, GMNN, RTTN, CDK5RAP2, CUL7, POC1A, CDT1, LARP7, CCDC8, SASS6, CEP63, OBSL1, CEP152, DNA2 , (...) View the complete list with 8 more genes Panel complete gene list PLK4, XRCC4, CRIPT, PCNT, ORC6, CENPJ, CDC6, GMNN, RTTN, CDK5RAP2, CUL7, POC1A, CDT1, LARP7, CCDC8, SASS6, CEP63, OBSL1, CEP152, DNA2, TRAIP, RNU4ATAC, LIG4, TRIM37, ORC1, ORC4, ATR, RBBP8 Specificity 4 % Genes 100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC , (...) View the complete list with 187 more genes Panel complete gene list ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC, TAC3, TACR3, TAF4B, TBX15, HNF1B, TEX11, MED12, CEP41, TSPYL1, WNT4, WNT5A, WNT7A, WT1, WWOX, ZP1, ARL6, FBXL4, WDR11, SLC26A8, ZEB2, CBX2, SPRY4, SETBP1, PROKR2, TOE1, TP63, PCNT, MCM8, SUN5, TRIM32, ZFPM2, UBR1, FIG4, CATSPER1, IL17RD, CDKN1C, PSMC3IP, ARX, SYCP3, HHAT, PROK2, GRIP1, BBS7, KLHL10, CFTR, FRAS1, CHD4, PLCZ1, EVC2, TTC8, HFM1, B3GLCT, PADI6, CHD7, TWIST2, CLPP, BCOR, ZMYND15, CUL7, ICK, MCM9, RSPO1, GALNTL5, LHX4, WDR60, NOBOX, FEZF1, NANOS1, FAT4, CREBBP, FIGLA, FREM2, CFAP44, MAMLD1, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, TMEM70, BBS10, SEPT12, BBS12, CFAP43, CCDC141, ESCO2, SOHLH1, CCNQ, DHCR24, DHCR7, DHH, SYCE1, SPECC1L, WDR35, EPG5, DMRT1, DMRT2, DNAH1, DYNC2H1, DNMT3B, NSMF, NUP107, SPATA16, BBS9, DUSP6, TRAIP, BNC2, EFNB1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EVC, AIRE, FGF10, FGF17, FGF8, FGFR1, FGFR2, FGFR3, FLNA, FLRT3, AKR1C4, FSHB, FSHR, GALT, GATA4, GLI3, GNRH1, GNRHR, GPC3, KISS1R, ADGRG2, AMH, AMHR2, HBA1, HCCS, HESX1, HFE, RIPK4, HOXA13, HOXA4, HOXB6, HS6ST1, HSD17B3, HSD17B4, HSD3B2, INSL3, IRF6, ANOS1, KISS1, AR, LEP, LEPR, LHB, LHCGR, LHX3, LMNA, MAP3K1, MID1, MKKS, MKS1, NEK1, ATF3, NPAS2, NR0B1, NR3C1, NR5A1, OPHN1, PCSK1, PDE4D, PEX1, ATRX, PITX2, AXL, POR, PICK1, PRLR, PROP1, PTDSS1, PTPN11, BBS1, BBS2, BBS4, BBS5, RBBP8 Specificity 1 % Genes 100 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). ROR2, SALL1, BMP15, BMP4, SEMA3A, BMP7, FOXL2, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TAC3, TACR3, TBX15, HNF1B, MED12 , (...) View the complete list with 138 more genes Panel complete gene list ROR2, SALL1, BMP15, BMP4, SEMA3A, BMP7, FOXL2, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TAC3, TACR3, TBX15, HNF1B, MED12, CEP41, TSPYL1, WNT4, WNT5A, WNT7A, WT1, WWOX, ARL6, FBXL4, WDR11, ZEB2, CBX2, SETBP1, PROKR2, TOE1, TP63, PCNT, TRIM32, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C, PSMC3IP, ARX, HHAT, PROK2, GRIP1, BBS7, FRAS1, CHD4, EVC2, TTC8, B3GLCT, CHD7, TWIST2, BCOR, CUL7, ICK, MCM9, RSPO1, LHX4, WDR60, FEZF1, FAT4, CREBBP, FREM2, MAMLD1, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, TMEM70, BBS10, BBS12, ESCO2, CCNQ, DHCR24, DHCR7, DHH, SPECC1L, WDR35, EPG5, DMRT1, DMRT2, DYNC2H1, DNMT3B, NSMF, BBS9, TRAIP, BNC2, EFNB1, EVC, FGF10, FGF8, FGFR1, FGFR2, FGFR3, FLNA, AKR1C4, FSHB, FSHR, GATA4, GLI3, GNRH1, GNRHR, GPC3, KISS1R, AMH, AMHR2, HBA1, HCCS, HESX1, HFE, RIPK4, HOXA13, HOXA4, HOXB6, HS6ST1, HSD17B3, HSD17B4, HSD3B2, INSL3, IRF6, ANOS1, KISS1, AR, LEP, LEPR, LHB, LHCGR, LHX3, LMNA, MAP3K1, MID1, MKKS, MKS1, NEK1, ATF3, NR0B1, NR3C1, NR5A1, OPHN1, PCSK1, PDE4D, PEX1, ATRX, PITX2, POR, PROP1, PTDSS1, PTPN11, BBS1, BBS2, BBS4, BBS5, RBBP8 Specificity 1 % Genes 100 %
Ambiguous Genitalia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). ROR2, SALL1, BMP4, SEMA3A, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT5A, WNT7A, WT1, WWOX , (...) View the complete list with 65 more genes Panel complete gene list ROR2, SALL1, BMP4, SEMA3A, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT5A, WNT7A, WT1, WWOX, SETBP1, PROKR2, TOE1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C, ARX, GRIP1, FRAS1, CHD4, B3GLCT, CHD7, TWIST2, BCOR, ICK, RSPO1, WDR60, FEZF1, FAT4, CREBBP, FREM2, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, ESCO2, CCNQ, DHCR24, DHCR7, DHH, SPECC1L, DMRT1, DYNC2H1, DNMT3B, NSMF, TRAIP, FGFR1, AKR1C4, GATA4, GNRHR, KISS1R, HCCS, RIPK4, HOXA13, HSD17B3, HSD17B4, HSD3B2, IRF6, ANOS1, AR, LHCGR, LMNA, MAP3K1, MKKS, MKS1, NEK1, NR0B1, NR5A1, OPHN1, ATRX, POR, PTPN11 Specificity 2 % Genes 100 %
Microcephalic primordial dwarfism Comprehensive panel. By Connective Tissue Gene Tests (United States). XRCC4, NIN, PCNT, ORC6, CENPJ, CDC45, CDC6, GMNN, CDT1, CEP63, CEP152, DNA2, DONSON, TRAIP, ATRIP, RNU4ATAC, LIG4, ORC1, ORC4, ATR , (...) View the complete list with 1 more genes Panel complete gene list XRCC4, NIN, PCNT, ORC6, CENPJ, CDC45, CDC6, GMNN, CDT1, CEP63, CEP152, DNA2, DONSON, TRAIP, ATRIP, RNU4ATAC, LIG4, ORC1, ORC4, ATR, RBBP8 Specificity 5 % Genes 100 %
Microcephalic primordial dwarfism Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). XRCC4, NIN, PCNT, ORC6, CENPJ, CDC45, CDC6, GMNN, CDT1, CEP63, CEP152, DNA2, DONSON, TRAIP, ATRIP, RNU4ATAC, LIG4, ORC1, ORC4, ATR , (...) View the complete list with 1 more genes Panel complete gene list XRCC4, NIN, PCNT, ORC6, CENPJ, CDC45, CDC6, GMNN, CDT1, CEP63, CEP152, DNA2, DONSON, TRAIP, ATRIP, RNU4ATAC, LIG4, ORC1, ORC4, ATR, RBBP8 Specificity 5 % Genes 100 %
Microcephalic primordial dwarfism NGS panel. By Connective Tissue Gene Tests (United States). XRCC4, NIN, PCNT, ORC6, CENPJ, CDC45, CDC6, GMNN, CDT1, CEP63, CEP152, DNA2, DONSON, TRAIP, ATRIP, RNU4ATAC, LIG4, ORC1, ORC4, ATR , (...) View the complete list with 1 more genes Panel complete gene list XRCC4, NIN, PCNT, ORC6, CENPJ, CDC45, CDC6, GMNN, CDT1, CEP63, CEP152, DNA2, DONSON, TRAIP, ATRIP, RNU4ATAC, LIG4, ORC1, ORC4, ATR, RBBP8 Specificity 5 % Genes 100 %

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Sources and references

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