Orofaciodigital Syndrome Xv; Ofd15

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 Orofaciodigital Syndrome Xv; Ofd15

KIAA0753

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Orofaciodigital Syndrome Xv; Ofd15

Hypertelorism
Abnormal facial shape
Wide nasal bridge
Ventriculomegaly
Anteverted nares
Agenesis of corpus callosum
Polydactyly
Hydronephrosis
Flat face
Postaxial polydactyly

And another 3 symptoms. If you need more information about this disease we can help you.

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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.

Alternative names

Orofaciodigital Syndrome Xv; Ofd15 Is also known as oral-facial-digital syndrome, type xv, ofds xv.

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.

Orofaciodigital Syndrome Xv; Ofd15 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Skeletal dysplasia and skeletal ciliopathy Comprehensive panel. By Connective Tissue Gene Tests (United States). RMRP, SLC26A2, SOX9, TRIP11, CFAP410, NSDHL, IFT122, IFT81, IFT52, TRPV4, WDR19, SBDS, EVC2, KIAA0586, SLC35D1, ICK, COL10A1, COL11A1, WDR60, COL11A2 , (...) View the complete list with 31 more genes Panel complete gene list RMRP, SLC26A2, SOX9, TRIP11, CFAP410, NSDHL, IFT122, IFT81, IFT52, TRPV4, WDR19, SBDS, EVC2, KIAA0586, SLC35D1, ICK, COL10A1, COL11A1, WDR60, COL11A2, COL1A2, C2CD3, DYNC2LI1, TTC21B, CEP120, DDR2, WDR34, TCTEX1D2, IFT140, KIAA0753, WDR35, IFT80, DYNC2H1, IFT43, IFT172, EBP, EVC, FGFR3, FLNB, ALPL, HSPG2, INPPL1, LBR, LIFR, MMP13, MMP9, ARSE, NEK1, PEX7, NKX3-2, PTH1R Specificity 2 % Genes 100 %
Skeletal dysplasia and skeletal ciliopathy NGS panel. By Connective Tissue Gene Tests (United States). RMRP, SLC26A2, SOX9, TRIP11, CFAP410, NSDHL, IFT122, IFT81, IFT52, TRPV4, WDR19, SBDS, EVC2, KIAA0586, SLC35D1, ICK, COL10A1, COL11A1, WDR60, COL11A2 , (...) View the complete list with 31 more genes Panel complete gene list RMRP, SLC26A2, SOX9, TRIP11, CFAP410, NSDHL, IFT122, IFT81, IFT52, TRPV4, WDR19, SBDS, EVC2, KIAA0586, SLC35D1, ICK, COL10A1, COL11A1, WDR60, COL11A2, COL1A2, C2CD3, DYNC2LI1, TTC21B, CEP120, DDR2, WDR34, TCTEX1D2, IFT140, KIAA0753, WDR35, IFT80, DYNC2H1, IFT43, IFT172, EBP, EVC, FGFR3, FLNB, ALPL, HSPG2, INPPL1, LBR, LIFR, MMP13, MMP9, ARSE, NEK1, PEX7, NKX3-2, PTH1R Specificity 2 % Genes 100 %
Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). RMRP, SLC26A2, SOX9, TRIP11, CFAP410, NSDHL, IFT122, IFT81, IFT52, TRPV4, WDR19, SBDS, EVC2, KIAA0586, SLC35D1, ICK, COL10A1, COL11A1, WDR60, COL11A2 , (...) View the complete list with 31 more genes Panel complete gene list RMRP, SLC26A2, SOX9, TRIP11, CFAP410, NSDHL, IFT122, IFT81, IFT52, TRPV4, WDR19, SBDS, EVC2, KIAA0586, SLC35D1, ICK, COL10A1, COL11A1, WDR60, COL11A2, COL1A2, C2CD3, DYNC2LI1, TTC21B, CEP120, DDR2, WDR34, TCTEX1D2, IFT140, KIAA0753, WDR35, IFT80, DYNC2H1, IFT43, IFT172, EBP, EVC, FGFR3, FLNB, ALPL, HSPG2, INPPL1, LBR, LIFR, MMP13, MMP9, ARSE, NEK1, PEX7, NKX3-2, PTH1R Specificity 2 % Genes 100 %
KIAA0753. By Fulgent Genetics Fulgent Genetics (United States). KIAA0753 Specificity 100 % Genes 100 %
Joubert Syndrome Panel. By Blueprint Genetics (Finland). CEP41, CFAP410, TMEM237, ZNF423, KIAA0586, ARMC9, INPP5E, AHI1, B9D1, TCTN3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120 , (...) View the complete list with 16 more genes Panel complete gene list CEP41, CFAP410, TMEM237, ZNF423, KIAA0586, ARMC9, INPP5E, AHI1, B9D1, TCTN3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120, TMEM138, TMEM107, TMEM67, B9D2, CEP290, KIAA0556, KIAA0753, RPGRIP1L, CEP164, CC2D2A, KIF7, TMEM231, MKS1, NPHP1, NPHP3, PDE6D Specificity 3 % Genes 100 %
Ciliopathy Panel. By Blueprint Genetics (Finland). SDCCAG8, CEP41, CFAP410, USP9X, ZIC3, ARL6, NEK8, IFT122, IFT81, TMEM237, PNPLA6, TRIM32, ZNF423, ACVR2B, TRAF3IP1, INVS, CEP83, DCDC2, WDR19, CENPF , (...) View the complete list with 79 more genes Panel complete gene list SDCCAG8, CEP41, CFAP410, USP9X, ZIC3, ARL6, NEK8, IFT122, IFT81, TMEM237, PNPLA6, TRIM32, ZNF423, ACVR2B, TRAF3IP1, INVS, CEP83, DCDC2, WDR19, CENPF, CRB2, BBS7, NPHP4, KIF14, EVC2, KIAA0586, TTC8, ARMC9, INPP5E, AHI1, WDR60, B9D1, TCTN3, C2CD3, DYNC2LI1, CEP104, TMEM216, DDX59, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, BBS10, HYLS1, BBS12, CEP120, ANKS6, TMEM138, C8orf37, WDPCP, BBIP1, TMEM107, TMEM67, CCNQ, DHCR7, B9D2, IQCB1, CEP290, KIAA0556, IFT140, KIAA0753, RPGRIP1L, CEP164, WDR35, CC2D2A, IFT80, GLIS2, MAPKBP1, DYNC2H1, IFT43, BBS9, IFT172, KIF7, POC1B, LEFTY2, EVC, TMEM231, ALMS1, GLI2, GLI3, LZTFL1, MKKS, MKS1, NEK1, NODAL, NPHP1, NPHP3, PDE6D, PKD1, PKD2, PKHD1, PMM2, BBS1, BBS2, BBS4, BBS5 Specificity 2 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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