Anterior Segment Dysgenesis 5; Asgd5

Description

Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see {106210}), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002).Patients with ASGD5 have been reported with the Peters anomaly, Axenfeld anomaly, and Rieger anomaly subtypes.Peters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea (Peters, 1906). It occurs as an isolated ocular abnormality or in association with other ocular defects.In Axenfeld anomaly, strands of iris tissue attach to the Schwalbe line; in Rieger anomaly, in addition to the attachment of iris tissue to the Schwalbe line, there is clinically evident iris stromal atrophy with hole or pseudo-hole formation and corectopia (summary by Smith and Traboulsi, 2012).

Clinical Features

Top most frequent phenotypes and symptoms related to Anterior Segment Dysgenesis 5; Asgd5

  • Nystagmus
  • Strabismus
  • Cataract
  • Coma
  • Glaucoma
  • Reduced visual acuity
  • Corneal opacity
  • Retinal detachment
  • Opacification of the corneal stroma
  • Amblyopia
And another 6 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Anterior Segment Dysgenesis 5; Asgd5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
80 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, BTK, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
20 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
20 %
Optic Atrophy and Early Glaucoma Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

SH3PXD2B, SLC4A4, LTBP2, ASB10, FOXE3, MAF, TBK1, ACVR1, CANT1, NR2F1, COL4A1, SBF2, MYOC, LMX1B, NDUFS1, CISD2, SPG7, TMEM126A, MTPAP, ACO2 , (...)

View the complete list with 14 more genes
Specificity
15 %
Genes
100 %
Axenfeld-Rieger syndrome.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.

B3GLCT, FOXE3, CYP1B1, PITX2, FOXC1, PITX3, PAX6
Specificity
72 %
Genes
100 %
Anterior segment defects.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.

KERA, B3GLCT, FOXE3, COL4A1, LAMB2, PORCN, PAX2, CYP1B1, PITX2, FOXC1, PITX3, PAX6, EYA1
Specificity
39 %
Genes
100 %
Primay Congenital Glaucoma.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.

CYP1B1
Specificity
100 %
Genes
20 %
Glaucoma (Primary Congenital), CYP1B1 Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

CYP1B1
Specificity
100 %
Genes
20 %
CYP1B1 Gene Sequencing.

By GeneDx in United States.

CYP1B1
Specificity
100 %
Genes
20 %
Glaucoma.

By Molecular Diagnostic Laboratory University of Alberta in Canada.

MYOC, CYP1B1
Specificity
50 %
Genes
20 %
CYP1B1 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

CYP1B1
Specificity
100 %
Genes
20 %
CYP1B1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CYP1B1
Specificity
100 %
Genes
20 %
MYOC, CYP1B1, LTBP2, OPTN. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

LTBP2, MYOC, CYP1B1, OPTN
Specificity
25 %
Genes
20 %
Congenital glaucoma (deletion/duplication analysis of CYP1B1 gene).

By CGC Genetics in Portugal.

CYP1B1
Specificity
100 %
Genes
20 %
Congenital glaucoma (sequence analysis of CYP1B1 gene).

By CGC Genetics in Portugal.

CYP1B1
Specificity
100 %
Genes
20 %
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes).

By CGC Genetics in Portugal.

HMX1, MIR184, SLC38A8, PXDN, ASPH, B3GLCT, BMP4, FOXE3, COL4A1, PTCH1, FGFR2, CYP1B1, JAG1, PITX2, FOXC1, PITX3, PAX6, VSX1
Specificity
28 %
Genes
100 %
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes).

By CGC Genetics in Portugal.

HMX1, MIR184, SLC38A8, PXDN, ASPH, B3GLCT, BMP4, FOXE3, COL4A1, PTCH1, FGFR2, CYP1B1, JAG1, PITX2, FOXC1, PITX3, PAX6, VSX1
Specificity
28 %
Genes
100 %
Primary Congenital Glaucoma.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

CYP1B1
Specificity
100 %
Genes
20 %
Irido-corneo-trabecular dysgenesis.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CYP1B1, PAX6
Specificity
100 %
Genes
40 %
Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CYP1B1
Specificity
100 %
Genes
20 %
Axenfeld-Rieger Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ASPH, B3GLCT, SH3PXD2B, FOXE3, COL4A1, CYP1B1, PITX2, FOXC1, PAX6
Specificity
56 %
Genes
100 %
Glaucoma Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

COL8A1, OPTC, ATOH7, COL8A2, WDR36, SH3PXD2B, SLC4A4, LTBP2, COL4A1, MYOC, LMX1B, CYP1B1, MFRP, PITX2, FOXC1, OPTN, PAX6
Specificity
24 %
Genes
80 %
Primary Congenital Glaucoma via CYP1B1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CYP1B1
Specificity
100 %
Genes
20 %
Peters Anomaly.

By MGZ Medical Genetics Center in Germany.

CYP1B1, PAX6
Specificity
100 %
Genes
40 %
CYP1B1-Related Primary Congenital Glaucoma.

By MGZ Medical Genetics Center in Germany.

CYP1B1
Specificity
100 %
Genes
20 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

OVOL2, TMEM98, SIPA1L3, SALL2, TMEM114, NDUFB11, JAM3, ADAMTS17, AGBL1, BMP7, HMX1, MIR184, SLC38A8, SMOC1, MAB21L2, CRYGS, PXDN, HSF4, P3H2, BFSP1 , (...)

View the complete list with 147 more genes
Specificity
3 %
Genes
100 %
Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome.

By MGZ Medical Genetics Center in Germany.

MIR184, SLC38A8, ASPH, COL4A2, B3GLCT, LTBP2, FOXE3, COL4A1, MYOC, CYP1B1, PITX2, FOXC1, PAX6, EYA1
Specificity
36 %
Genes
100 %
Microphthalmia-Anophthalmia-Coloboma Complex (MAC).

By MGZ Medical Genetics Center in Germany.

SALL2, HMX1, SMOC1, MAB21L2, ERCC1, ERCC5, C12orf57, FRAS1, FREM2, GRIP1, TBC1D20, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, VSX2, VAX1, RAB18 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
20 %
Axenfeld-Rieger syndrome type 3.

By Centogene AG - the Rare Disease Company in Germany.

CYP1B1
Specificity
100 %
Genes
20 %
Peters Anomaly.

By Centogene AG - the Rare Disease Company in Germany.

CYP1B1
Specificity
100 %
Genes
20 %
Glaucoma, primary type 3A.

By Centogene AG - the Rare Disease Company in Germany.

CYP1B1
Specificity
100 %
Genes
20 %
Rieger syndrome.

By Centogene AG - the Rare Disease Company in Germany.

CYP1B1
Specificity
100 %
Genes
20 %
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis.

By Asper Biogene Asper Biogene LLC in Estonia.

SLC38A8, SMOC1, MAB21L2, HMGB3, ASPH, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1, RARB, LTBP2, FOXE3, GDF6, COL4A1, CHD7, HESX1 , (...)

View the complete list with 15 more genes
Specificity
15 %
Genes
100 %
Glaucoma.

By Asper Biogene Asper Biogene LLC in Estonia.

LOXL1, NTF4, LTBP3, COL18A1, WDR36, SLC4A4, LTBP2, ASB10, ACVR1, CANT1, SBF2, MYOC, LMX1B, CYP1B1, PITX2, FOXC1, OPTN, PITX3, PAX6, BEST1
Specificity
20 %
Genes
80 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ZNF644, YAP1, JAM3, HMX1, ADAMTS18, SMOC1, CRYGS, HSF4, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, RGS9BP, PLA2G5 , (...)

View the complete list with 255 more genes
Specificity
2 %
Genes
60 %
Developmental Eye Disease panel.

By Molecular Vision Laboratory in United States.

DCDC1, LHX2, SNX3, ELP4, TMEM98, COX7B, HMX1, MAB21L2, HMGB3, ATOH7, C12orf57, SLC25A1, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1 , (...)

View the complete list with 39 more genes
Specificity
9 %
Genes
100 %
CYP1B1 single gene sequencing.

By Molecular Vision Laboratory in United States.

CYP1B1
Specificity
100 %
Genes
20 %
Glaucoma 3.

By Praxis fuer Humangenetik Wien in Austria.

CYP1B1
Specificity
100 %
Genes
20 %
Peters anomaly.

By Praxis fuer Humangenetik Wien in Austria.

CYP1B1
Specificity
100 %
Genes
20 %
Peters anomaly.

By Praxis fuer Humangenetik Wien in Austria.

CYP1B1
Specificity
100 %
Genes
20 %
Glaucoma 3.

By MedGene in Slovakia.

CYP1B1
Specificity
100 %
Genes
20 %
Peters anomaly.

By MedGene in Slovakia.

CYP1B1
Specificity
100 %
Genes
20 %
Peters anomaly.

By MedGene in Slovakia.

CYP1B1
Specificity
100 %
Genes
20 %
Invitae Early-Onset Glaucoma Panel.

By Invitae in United States.

CYP1B1, PITX2, FOXC1
Specificity
100 %
Genes
60 %
Glaucoma: CYP1B1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CYP1B1
Specificity
100 %
Genes
20 %
Glaucoma.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

OLFM2, LOXL1, NTF4, OPTC, COL8A2, WDR36, PRSS56, VSX2, SH3PXD2B, LTBP2, ASB10, MYOC, RPGRIP1, CYP1B1, MFRP, FOXC1, OPA1, OPTN, PAX6
Specificity
16 %
Genes
60 %
Glaucoma (Advance).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

OLFM2, LOXL1, NTF4, OPTC, COL8A2, COL18A1, WDR36, PRSS56, VSX2, SH3PXD2B, SLC4A4, LTBP2, ASB10, ACVR1, CANT1, ISPD, POMT1, SBF2, RPS19, MYOC , (...)

View the complete list with 14 more genes
Specificity
9 %
Genes
60 %
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMOC1, FRAS1, FREM2, GRIP1, B3GLCT, BMP4, VSX2, FREM1, VAX1, FOXE3, COL4A1, SOX2, BCOR, HCCS, STRA6, CYP1B1, OTX2, NDP, MFRP, PITX2 , (...)

View the complete list with 3 more genes
Specificity
22 %
Genes
100 %
Eye Disorders: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1 , (...)

View the complete list with 190 more genes
Specificity
3 %
Genes
100 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F9, VWF, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
20 %
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMOC1, FRAS1, FREM2, GRIP1, B3GLCT, BMP4, VSX2, FREM1, VAX1, FOXE3, COL4A1, SOX2, BCOR, HCCS, STRA6, CYP1B1, OTX2, NDP, MFRP, PITX2 , (...)

View the complete list with 3 more genes
Specificity
22 %
Genes
100 %
Eye Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1 , (...)

View the complete list with 187 more genes
Specificity
3 %
Genes
100 %
Eye Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RGS9BP, VCAN, VSX2, RPGRIP1L, RBP4, HMCN1, CDH3, CNNM4, RAX2, UNC119, COL11A1, COL9A1, TREX1, AHI1, TTPA, PEX1, PEX7, PEX2, MTTP, ROM1 , (...)

View the complete list with 118 more genes
Specificity
3 %
Genes
80 %
Glaucoma NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

LOXL1, NTF4, COL18A1, WDR36, SLC4A4, LTBP2, ACVR1, CANT1, ISPD, POMT1, SBF2, RPS19, MYOC, LMX1B, CA4, RRM2B, CYP1B1, FOXC1, OPA1, OPTN , (...)

View the complete list with 5 more genes
Specificity
12 %
Genes
60 %
CYP1B1.

By Fulgent Genetics Fulgent Genetics in United States.

CYP1B1
Specificity
100 %
Genes
20 %
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel.

By Blueprint Genetics in Finland.

COX7B, BMP7, HMX1, SLC38A8, ADAMTS18, SMOC1, MAB21L2, PXDN, ERCC5, FRAS1, FREM2, GRIP1, ALDH1A3, TENM3, PRSS56, BMP4, VSX2, FREM1, RARB, GJA1 , (...)

View the complete list with 34 more genes
Specificity
10 %
Genes
100 %
Glaucoma Panel.

By Blueprint Genetics in Finland.

WDR36, TEK, LTBP2, FOXE3, MAF, TBK1, CNTNAP2, COL4A1, MYOC, LMX1B, TMEM126A, OPA3, CYP1B1, PITX2, FOXC1, OPA1, OPTN, PAX6
Specificity
28 %
Genes
100 %
Primary congenital glaucoma 3A.

By Bioarray in Spain.

CYP1B1
Specificity
100 %
Genes
20 %
CarrierMap.

By Recombine in United States.

VPS53, SLC26A3, BCHE, HGD, GDF5, XPC, SLC7A9, LIFR, XPA, WRN, SEPSECS, MED17, ASNS, AMHR2, AMH, CYP19A1, HJV, HOGA1, TFR2, TTC37 , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
20 %
GLAUCOMA, CONGENITAL.

By Laboratorio de Genetica Clinica SL in Spain.

CYP1B1, OPTN
Specificity
50 %
Genes
20 %
GLAUCOMA, JUVENILE.

By Laboratorio de Genetica Clinica SL in Spain.

MYOC, CYP1B1
Specificity
50 %
Genes
20 %
GLAUCOMA,PRIMARY.

By Laboratorio de Genetica Clinica SL in Spain.

LTBP2, CYP1B1
Specificity
50 %
Genes
20 %
Primary Congenital Glaucoma, Sequencing CYP1B1 Gene.

By Reference Laboratory Genetics in Spain.

CYP1B1
Specificity
100 %
Genes
20 %
Primary Congenital Glaucoma , Deletions-Duplications (MLPA) CYP1B1 Gene.

By Reference Laboratory Genetics in Spain.

CYP1B1
Specificity
100 %
Genes
20 %
Glaucoma , Panel Massive Sequencing (NGS) 17 Genes.

By Reference Laboratory Genetics in Spain.

LOXL1, NTF4, COL8A2, WDR36, PRSS56, VSX2, SH3PXD2B, LTBP2, ASB10, MYOC, RPGRIP1, CYP1B1, MFRP, FOXC1, OPA1, OPTN, PAX6
Specificity
18 %
Genes
60 %
Anterior Segment Dysgenesis (Peters Anomaly) , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

PXDN, FOXE3, CYP1B1, PITX2, FOXC1, PITX3, PAX6
Specificity
72 %
Genes
100 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

HLA-DRB5, HLA-C, PPP6C, ZNRF3, FOXQ1, TBC1D12, WEE1, YEATS4, POU2F2, C8orf34, SEMA3C, PDPK1, HLA-G, LAG3, CCDC6, MEF2B, AURKA, TOP1, P2RY8, FGF4 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
20 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD, PKHD1, LAMC2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
20 %
Primary Congenital Glaucoma: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TEK, LTBP2, CYP1B1
Specificity
34 %
Genes
20 %
Hearing Loss Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MASP1, MYO1A, DTD1, SLC29A3, SALL4, MITF, GPSM2, MT-RNR1, RPS6KA3, CEACAM16, DIAPH3, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, SEMA3E, POU4F3 , (...)

View the complete list with 102 more genes
Specificity
2 %
Genes
40 %
Axenfeld-Rieger syndrome.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.

PITX2, FOXC1
Specificity
100 %
Genes
40 %
Hypospadias Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

PTDSS1, PDE4D, CUL7, MAMLD1, SPECC1L, IRF6, FRAS1, MAP3K1, WNT7A, DNMT3B, HOXA13, FREM2, ESCO2, GRIP1, UBR1, EPG5, B3GLCT, BMP4, RBBP8, EVC2 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
20 %
PITX2 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

PITX2
Specificity
100 %
Genes
20 %
PITX2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PITX2
Specificity
100 %
Genes
20 %
PITX2. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PITX2
Specificity
100 %
Genes
20 %
PITX2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PITX2
Specificity
100 %
Genes
20 %
PITX2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PITX2
Specificity
100 %
Genes
20 %
Axenfeld-Rieger syndrome (deletion/duplication analysis of PITX2 and FOXC1 genes).

By CGC Genetics in Portugal.

PITX2, FOXC1
Specificity
100 %
Genes
40 %
Axenfeld-Rieger syndrome (sequence analysis of PITX2 gene).

By CGC Genetics in Portugal.

PITX2
Specificity
100 %
Genes
20 %
Peters anomaly (sequence analysis of PITX2 gene).

By CGC Genetics in Portugal.

PITX2
Specificity
100 %
Genes
20 %
PITX2- Related Disorders via PITX2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PITX2
Specificity
100 %
Genes
20 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHD4, TOE1, ATF3, BNC2, HHAT, GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2 , (...)

View the complete list with 186 more genes
Specificity
1 %
Genes
20 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHD4, TOE1, ATF3, BNC2, HHAT, INSL3, CBX2, AKR1C4, DMRT2, DMRT1, HOXA4, HOXB6, BMP7, MCM9, HS6ST1, NR3C1, TWIST2, TRAIP, KISS1, PTDSS1 , (...)

View the complete list with 138 more genes
Specificity
1 %
Genes
20 %
Cataract.

By MGZ Medical Genetics Center in Germany.

TMEM114, JAM3, MIR184, CRYGS, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, ERCC1, CRYAA , (...)

View the complete list with 45 more genes
Specificity
7 %
Genes
80 %
PITX2 related Axenfeld-Rieger syndrome, type 1 ; Peters anomaly.

By MGZ Medical Genetics Center in Germany.

PITX2
Specificity
100 %
Genes
20 %
Axenfeld-Rieger syndrome type 3.

By Centogene AG - the Rare Disease Company in Germany.

PITX2
Specificity
100 %
Genes
20 %
Rieger syndrome.

By Centogene AG - the Rare Disease Company in Germany.

PITX2
Specificity
100 %
Genes
20 %
Congenital Heart Defects Panel.

By CeGaT GmbH in Germany.

IRX4, TLL1, NKX2-6, NR2F2, NAA15, MED13L, TAB2, SMAD6, TBX3, TFAP2B, TBX20, GATA5, ZFPM2, NOTCH2, GJA5, CFAP53, CFC1, GATA6, ACVR2B, CRELD1 , (...)

View the complete list with 24 more genes
Specificity
5 %
Genes
40 %
Single gene testing PITX2.

By CeGaT GmbH in Germany.

PITX2
Specificity
100 %
Genes
20 %
Auricular Fibrillation Panel.

By Health in Code in Spain.

KCNE5, SCN10A, GJA5, NPPA, GATA6, GATA4, GJA1, TBX5, JPH2, TNNT2, TPM1, TNNI3, NKX2-5, ACTC1, KCNA5, KCNK3, SCN4B, KCNJ5, KCNE2, RYR2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
20 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

FHOD3, FOXD4, SMAD1, TRIM63, KLF10, LRP6, CALR3, MIB1, TBX20, CAVIN4, APOC3, ADAMTSL4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
20 %
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease.

By Health in Code in Spain.

FHOD3, TRIM63, KLF10, CALR3, CAVIN4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA, GATA6, GATA4, FHL2, CTF1, GJA1, TBX5, VCL , (...)

View the complete list with 121 more genes
Specificity
1 %
Genes
20 %
Cardiomyopathies Panel.

By Health in Code in Spain.

FHOD3, FOXD4, TRIM63, KLF10, CALR3, MIB1, TBX20, CAVIN4, CTNNA3, OBSL1, AGPAT2, GJA5, GATA6, CRELD1, GATA4, TMPO, TXNRD2, FHL2, CTF1, GJA1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
20 %
Congenital Heart Diseases Panel.

By Health in Code in Spain.

TBX20, GJA5, GATA6, CRELD1, GATA4, GJA1, TBX5, DTNA, NEXN, MYH6, TNNI3, ANKRD1, NKX2-5, ACTC1, KCNJ8, MYH11, ACTA2, SMAD3, NOTCH1, TBX1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
20 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

CH25H, BMP10, TRIB1, TOPBP1, ISL1, GREM2, HAND2, SLC25A40, NNT, PPARA, MYOM1, LPA, SLC22A8, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, SMAD1 , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
40 %
Atrial fibrillation Panel.

By Health in Code in Spain.

GREM2, NKX2-6, TNNI3K, GATA5, KCNE5, SCN10A, GJA5, NPPA, GATA6, GATA4, GJA1, TBX5, JPH2, TNNT2, TPM1, TNNI3, NKX2-5, ACTC1, KCNA5, KCNK3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
20 %
Arrhythmia General Panel.

By Health in Code in Spain.

GREM2, NNT, MYOM1, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, NKX2-6, MRPL44, KCND2, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALM3, CALR3, MIB1 , (...)

View the complete list with 198 more genes
Specificity
1 %
Genes
20 %
Congenital heart diseases Panel.

By Health in Code in Spain.

ISL1, HAND2, IRX4, MCTP2, NKX2-6, MED13L, TNNI3K, TAB2, SMAD6, TFAP2B, MIB1, TBX20, GATA5, ZFPM2, NOTCH2, GJA5, TDGF1, CFC1, PDGFRA, GATA6 , (...)

View the complete list with 56 more genes
Specificity
3 %
Genes
40 %
Axenfeld-Rieger syndrome.

By Praxis fuer Humangenetik Wien in Austria.

PITX2
Specificity
100 %
Genes
20 %
Iridogoniodysgenesis, type 2.

By Praxis fuer Humangenetik Wien in Austria.

PITX2
Specificity
100 %
Genes
20 %
Peters anomaly.

By Praxis fuer Humangenetik Wien in Austria.

PITX2
Specificity
100 %
Genes
20 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

SEM1, IGF2, CBFB, TRAPPC10, FBXW11, TBX3, HDAC4, TRPS1, STS, HOXD13, LMNB1, MID2, IRF6, MNX1, SIM1, DISP1, MYCN, GATA4, ZIC3, VEGFA , (...)

View the complete list with 106 more genes
Specificity
2 %
Genes
40 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

UBB, PAX7, HOXA2, TSHZ1, EIF4A3, DLX4, TBX22, SUMO1, KDM1A, SMOC2, WDR72, NOG, ODAPH, MMP20, KLK4, NECTIN1, ENAM, LTBP3, LRP6, PAX9 , (...)

View the complete list with 116 more genes
Specificity
3 %
Genes
60 %
Axenfeld-Rieger syndrome.

By MedGene in Slovakia.

PITX2
Specificity
100 %
Genes
20 %
Iridogoniodysgenesis, type 2.

By MedGene in Slovakia.

PITX2
Specificity
100 %
Genes
20 %
Peters anomaly.

By MedGene in Slovakia.

PITX2
Specificity
100 %
Genes
20 %
Invitae Congenital Cataracts Panel.

By Invitae in United States.

CRYGS, HSF4, BFSP1, EPHA2, CRYGC, CRYBB2, MIP, CRYBA1, BFSP2, CRYGD, CRYAA, CRYBB3, CRYBB1, GCNT2, GJA8, FAM126A, VSX2, CTDP1, MAF, SIL1 , (...)

View the complete list with 12 more genes
Specificity
10 %
Genes
60 %
Invitae Axenfeld-Rieger Panel.

By Invitae in United States.

PITX2, FOXC1
Specificity
100 %
Genes
40 %
Peters Anomaly: PITX2 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PITX2
Specificity
100 %
Genes
20 %
Axenfeld-Rieger syndrome, type 1: PITX2 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PITX2
Specificity
100 %
Genes
20 %
Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SHOX2, IGF1R, IGF1, TBCE, WRN, CUL7, ROR2, SRCAP, SMARCAL1, STAT5B, INSR, TRIM37, EP300, THRB, LHX3, ERCC6, KDM6A, GLI2, SOX3, RPS6KA3 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
20 %
Hearing Loss: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MASP1, MYO1A, SLC29A3, SALL4, MITF, GPSM2, MT-RNR1, RPS6KA3, GRXCR2, SYNE4, ELMOD3, TMEM132E, OTOGL, CEACAM16, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP , (...)

View the complete list with 111 more genes
Specificity
2 %
Genes
40 %
Hearing Loss: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MASP1, MYO1A, SLC29A3, SALL4, GPSM2, RPS6KA3, CEACAM16, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, OTOA, MYH9, MYH14, LHFPL5, LRTOMT, GJB3 , (...)

View the complete list with 71 more genes
Specificity
3 %
Genes
40 %
PITX2.

By Fulgent Genetics Fulgent Genetics in United States.

PITX2
Specificity
100 %
Genes
20 %
Comprehensive Short Stature Syndrome Panel.

By Blueprint Genetics in Finland.

IRS1, IGFALS, IGF1R, TBX3, IGF1, POC1A, LARP7, CCDC8, OBSL1, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, CDC45, CEP63, CUL7, RTTN , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
20 %
Corneal Dystrophy Panel.

By Blueprint Genetics in Finland.

OVOL2, CHRDL1, GJA8, TACSTD2, UBIAD1, PIKFYVE, DCN, COL8A2, COL17A1, KERA, LCAT, FOXE3, MAF, CHST6, ZNF469, PRDM5, LOXHD1, SLC4A11, TCF4, GSN , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
40 %
Congenital Structural Heart Disease Panel.

By Blueprint Genetics in Finland.

CDK13, HAND1, TLL1, PRKD1, MEIS2, NKX2-6, NR2F2, NAA15, CHD4, TGDS, ADAMTS17, TAB2, TFAP2B, TBX20, ADAMTS10, EIF2AK4, GATA5, ZFPM2, NOTCH2, GJA5 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
20 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

IRS1, CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, IGFALS, BHLHA9 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
20 %
Axenfeld-Rieger syndrome type 1.

By Bioarray in Spain.

PITX2
Specificity
100 %
Genes
20 %
Axenfeld-Rieger syndrome type 1.

By Bioarray in Spain.

PITX2
Specificity
100 %
Genes
20 %
Axenfeld-Rieger syndrome type 1.

By Bioarray in Spain.

PITX2
Specificity
100 %
Genes
20 %
Peters anomaly.

By Bioarray in Spain.

PITX2
Specificity
100 %
Genes
20 %
Axenfeld-Rieger syndrome.

By Bioarray in Spain.

PITX2
Specificity
100 %
Genes
20 %
Axenfeld-Rieger syndrome.

By Bioarray in Spain.

PITX2
Specificity
100 %
Genes
20 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK , (...)

View the complete list with 153 more genes
Specificity
2 %
Genes
40 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK , (...)

View the complete list with 153 more genes
Specificity
2 %
Genes
40 %
AXENFELD-RIEGER SYNDROME (RIEGER DISEASE).

By Laboratorio de Genetica Clinica SL in Spain.

PITX2, FOXC1
Specificity
100 %
Genes
40 %
Axenfeld-Rieger Syndrome Type 1 , Sequencing PITX2 Gene.

By Reference Laboratory Genetics in Spain.

PITX2
Specificity
100 %
Genes
20 %
Axenfeld-Rieger Syndrome Type 1 , Deletions-Duplications (MLPA) PITX2 Gene.

By Reference Laboratory Genetics in Spain.

PITX2
Specificity
100 %
Genes
20 %
Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes.

By Reference Laboratory Genetics in Spain.

ECE1, CTNNA3, CACNA1G, GJA5, NPPA, NUP155, SLC6A4, GJA1, DPP6, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1 , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
20 %
Familial Aneurysm Panel.

By Collagen Diagnostic Laboratory University of Washington in United States.

BGN, LOX, SMAD2, MAT2A, MFAP5, PRKG1, TGFB3, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, SMAD4, CBS , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
20 %
Anophthalmia/microphthalmia.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.

ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, ALX1, VSX2, FREM1, VAX1, RARB, GJA1, FOXE3, GDF6, GLI3, TFAP2A, COL4A1, PORCN, PAX2, SOX2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
20 %
FOXE3.

By Institute for Human Genetics University Clinic Freiburg in Germany.

FOXE3
Specificity
100 %
Genes
20 %
Connective Tissue Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

SMAD6, GATA5, LOX, SMAD2, MAT2A, B3GAT3, MFAP5, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
20 %
Connective Tissue Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

SMAD6, GATA5, LOX, SMAD2, MAT2A, B3GAT3, MFAP5, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
20 %
Connective Tissue Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

SMAD6, GATA5, LOX, SMAD2, MAT2A, B3GAT3, MFAP5, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
20 %
Cataracts (NGS panel for 41 genes).

By CGC Genetics in Portugal.

CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, CRYBA2, BFSP2, CHMP4B, CRYGD, CRYAA, LIM2, TDRD7 , (...)

View the complete list with 21 more genes
Specificity
5 %
Genes
40 %
Anterior segment mesenchymal dysgenesis (sequence analysis of FOXE3 gene).

By CGC Genetics in Portugal.

FOXE3
Specificity
100 %
Genes
20 %
Anterior Segment Dysgenesis via FOXE3 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FOXE3
Specificity
100 %
Genes
20 %
Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LOX, MAT2A, MFAP5, PRKG1, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, SMS , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
20 %
Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BMP7, SMOC1, ALDH1A3, TENM3, BMP4, CRYBA4, VSX2, FOXE3, GDF6, MITF, SOX2, SIX6, BCOR, HCCS, STRA6, OTX2, RAX
Specificity
6 %
Genes
20 %
Congenital Cataracts Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MIR184, CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, CRYAA, LIM2, TDRD7 , (...)

View the complete list with 20 more genes
Specificity
5 %
Genes
40 %
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LOX, MAT2A, MFAP5, PRKG1, TGFB3, FOXE3, MYH11, ACTA2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, SMAD4, FBN1, COL3A1
Specificity
6 %
Genes
20 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

BGN, LOX, SMAD2, MAT2A, MFAP5, PRKG1, TGFB3, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
20 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

BGN, LOX, SMAD2, MAT2A, MFAP5, PRKG1, TGFB3, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
20 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

BGN, LOX, SMAD2, MAT2A, MFAP5, PRKG1, TGFB3, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
20 %
Cataract panel.

By Centogene AG - the Rare Disease Company in Germany.

UNC45B, LSS, LEMD2, SIPA1L3, CRYGS, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, CRYBA2, BFSP2, CHMP4B, CRYGD , (...)

View the complete list with 25 more genes
Specificity
7 %
Genes
60 %
Cataract Panel.

By CeGaT GmbH in Germany.

CRYGA, LSS, SIPA1L3, CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, CRYAA , (...)

View the complete list with 21 more genes
Specificity
5 %
Genes
40 %
Invitae Microphthalmia/Anophthalmia Disorders Panel.

By Invitae in United States.

PXDN, ALDH1A3, PRSS56, BMP4, VSX2, FOXE3, GDF6, PAX2, SOX2, BCOR, STRA6, SHH, OTX2, MFRP, RAX
Specificity
7 %
Genes
20 %
FOXE3.

By Fulgent Genetics Fulgent Genetics in United States.

FOXE3
Specificity
100 %
Genes
20 %
Cataract Panel.

By Blueprint Genetics in Finland.

ADAMTS18, CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, CRYAA, LIM2, TDRD7, CRYBB3 , (...)

View the complete list with 49 more genes
Specificity
3 %
Genes
40 %
Congenital Cataracts , Panel Massive Sequencing (NGS) 40 Genes.

By Reference Laboratory Genetics in Spain.

MIR184, CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, CRYAA, LIM2, TDRD7 , (...)

View the complete list with 20 more genes
Specificity
5 %
Genes
40 %
FOXC1 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

FOXC1
Specificity
100 %
Genes
20 %
FOXC1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

FOXC1
Specificity
100 %
Genes
20 %
FOXC1. Complete sequencing Secuenciación completa.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

FOXC1
Specificity
100 %
Genes
20 %
Axenfeld-Rieger syndrome (sequence analysis of FOXC1 gene).

By CGC Genetics in Portugal.

FOXC1
Specificity
100 %
Genes
20 %
Peters anomaly (sequence analysis of FOXC1 gene).

By CGC Genetics in Portugal.

FOXC1
Specificity
100 %
Genes
20 %
FOXC1-Related Disorders via the FOXC1 Gene.

By PreventionGenetics PreventionGenetics in United States.

FOXC1
Specificity
100 %
Genes
20 %
FOXC1.

By MGZ Medical Genetics Center in Germany.

FOXC1
Specificity
100 %
Genes
20 %
Axenfeld-Rieger syndrome type 3.

By Centogene AG - the Rare Disease Company in Germany.

FOXC1
Specificity
100 %
Genes
20 %
Iridogoniodysgenesis, type 1.

By Centogene AG - the Rare Disease Company in Germany.

FOXC1
Specificity
100 %
Genes
20 %
Rieger syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FOXC1
Specificity
100 %
Genes
20 %
Renal Dysplasia, Renal Agenesia, CAKUT Panel.

By CeGaT GmbH in Germany.

ALDH1A2, OSR1, DSTYK, CHD1L, SPRY1, TRAP1, UPK3A, TBX18, FGF20, ITGA8, BICC1, ROBO2, SOX17, GDNF, FRAS1, FREM2, GRIP1, BMP4, FREM1, SDCCAG8 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
20 %
Single gene testing FOXC1.

By CeGaT GmbH in Germany.

FOXC1
Specificity
100 %
Genes
20 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1 , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
20 %
FOXC1.

By Fulgent Genetics Fulgent Genetics in United States.

FOXC1
Specificity
100 %
Genes
20 %
Axenfeld-Rieger syndrome.

By Bioarray in Spain.

FOXC1
Specificity
100 %
Genes
20 %
Axenfeld-Rieger syndrome.

By Bioarray in Spain.

FOXC1
Specificity
100 %
Genes
20 %
Axenfeld-Rieger Syndrome Type 3 , Sequencing FOXC1 Gene.

By Reference Laboratory Genetics in Spain.

FOXC1
Specificity
100 %
Genes
20 %
Iridogoniodysgenesis Type 1 , Sequencing FOXC1 Gene.

By Reference Laboratory Genetics in Spain.

FOXC1
Specificity
100 %
Genes
20 %
Axenfeld-Rieger Syndrome Type 3 , Deletions-Duplications (MLPA) FOXC1 Gene.

By Reference Laboratory Genetics in Spain.

FOXC1
Specificity
100 %
Genes
20 %
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations.

By Athena Diagnostics Inc in United States.

TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
20 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
20 %
PAX6-Related Disorders - PAX6 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

PAX6
Specificity
100 %
Genes
20 %
PAX6-Related Disorders - Del/dup Analysis.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

PAX6
Specificity
100 %
Genes
20 %
Aniridia.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.

PAX6
Specificity
100 %
Genes
20 %
PAX6 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

PAX6
Specificity
100 %
Genes
20 %
PAX6 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

PAX6
Specificity
100 %
Genes
20 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1 , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
20 %
PAX6 Gene Sequencing.

By GeneDx in United States.

PAX6
Specificity
100 %
Genes
20 %
PAX6 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

PAX6
Specificity
100 %
Genes
20 %
PAX6. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PAX6
Specificity
100 %
Genes
20 %
PAX6. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PAX6
Specificity
100 %
Genes
20 %
PAX6. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PAX6
Specificity
100 %
Genes
20 %
Aniridia (deletion/duplication analysis of PAX6 gene).

By CGC Genetics in Portugal.

PAX6
Specificity
100 %
Genes
20 %
Aniridia (sequence analysis of PAX6 gene).

By CGC Genetics in Portugal.

PAX6
Specificity
100 %
Genes
20 %
Peters anomaly (sequence analysis of PAX6 gene).

By CGC Genetics in Portugal.

PAX6
Specificity
100 %
Genes
20 %
Coloboma of optic nerve (sequence analysis of PAX6 gene).

By CGC Genetics in Portugal.

PAX6
Specificity
100 %
Genes
20 %
Diabetes mellitus permanent neonatal (NGS panel for 13 genes).

By CGC Genetics in Portugal.

GATA6, PTF1A, GLIS3, RFX6, IER3IP1, SLC19A2, PDX1, INS, KCNJ11, ABCC8, GCK, HNF1B, PAX6
Specificity
8 %
Genes
20 %
Optic nerve hypoplasia (deletion/duplication analysis on PAX6 gene).

By CGC Genetics in Portugal.

PAX6
Specificity
100 %
Genes
20 %
Coloboma of optic disc (deletions/duplications analysis of PAX6 gene).

By CGC Genetics in Portugal.

PAX6
Specificity
100 %
Genes
20 %
Septooptic dysplasia (NGS panel for 17 genes).

By CGC Genetics in Portugal.

TAX1BP3, EPG5, LHX3, LHX4, GLI2, SOX3, GH1, POU1F1, ANOS1, FGF8, SLC12A6, PROP1, FGFR2, HESX1, SOX2, OTX2, PAX6
Specificity
6 %
Genes
20 %
Coloboma of optic disc (deletions/duplications analysis of PAX6 gene).

By CGC Genetics in Portugal.

PAX6
Specificity
100 %
Genes
20 %
Septooptic dysplasia (NGS panel for 17 genes).

By CGC Genetics in Portugal.

TAX1BP3, EPG5, LHX3, LHX4, GLI2, SOX3, GH1, POU1F1, ANOS1, FGF8, SLC12A6, PROP1, FGFR2, HESX1, SOX2, OTX2, PAX6
Specificity
6 %
Genes
20 %
Wilms' tumor.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

PAX6, WT1
Specificity
50 %
Genes
20 %
11p partial monosomy syndrome.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

PAX6, WT1
Specificity
50 %
Genes
20 %
Congenital aniridia.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

PAX6
Specificity
100 %
Genes
20 %
Foveal hypoplasia and presenile cataract syndrome.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

PAX6
Specificity
100 %
Genes
20 %
Aniridia.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

PAX6
Specificity
100 %
Genes
20 %
Cataract with late-onset corneal dystrophy.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

PAX6
Specificity
100 %
Genes
20 %
Aniridia via PAX6 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PAX6
Specificity
100 %
Genes
20 %
Septo-optic Dysplasia Spectrum Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PROP1, HESX1, SOX2, OTX2, PAX6
Specificity
20 %
Genes
20 %
Aniridia.

By Institute of Human Genetics Cologne University in Germany.

PAX6
Specificity
100 %
Genes
20 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
20 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
20 %
Isolated Aniridia.

By MGZ Medical Genetics Center in Germany.

PAX6
Specificity
100 %
Genes
20 %
PAX6-Related Anophthalmia.

By MGZ Medical Genetics Center in Germany.

PAX6
Specificity
100 %
Genes
20 %
Foveal Hypoplasia and Presenile Cataract Syndrome.

By MGZ Medical Genetics Center in Germany.

PAX6
Specificity
100 %
Genes
20 %
PAX6-Related Anophthalmia.

By Bioscientia GmbH Center for Human Genetics in Germany.

VSX2, SOX2, SIX6, OTX2, PAX6
Specificity
20 %
Genes
20 %
Isolated Aniridia.

By Bioscientia GmbH Center for Human Genetics in Germany.

PAX6
Specificity
100 %
Genes
20 %
Axenfeld-Rieger syndrome type 3.

By Centogene AG - the Rare Disease Company in Germany.

PAX6
Specificity
100 %
Genes
20 %
Aniridia.

By Centogene AG - the Rare Disease Company in Germany.

PAX6
Specificity
100 %
Genes
20 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
20 %
Rieger syndrome.

By Centogene AG - the Rare Disease Company in Germany.

PAX6
Specificity
100 %
Genes
20 %
Aniridia.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

PAX6
Specificity
100 %
Genes
20 %
WAGR syndrome.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

PAX6, WT1
Specificity
50 %
Genes
20 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

RPIA, POLH, NOP56, XPC, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, XPA, TRNT1, PMPCA, RUBCN, SLC9A1, STUB1 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
20 %
Single gene testing PAX6.

By CeGaT GmbH in Germany.

PAX6
Specificity
100 %
Genes
20 %
PAX6.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PAX6
Specificity
100 %
Genes
20 %
Aniridia.

By Asper Biogene Asper Biogene LLC in Estonia.

PAX6
Specificity
100 %
Genes
20 %
Cataract.

By Asper Biogene Asper Biogene LLC in Estonia.

UNC45B, LSS, SIPA1L3, CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, CRYAA , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
20 %
Aniridia, PAX6 sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

PAX6
Specificity
100 %
Genes
20 %
Septo-optic dysplasia.

By Molecular Vision Laboratory in United States.

HESX1, SOX2, OTX2, PAX6
Specificity
25 %
Genes
20 %
Aniridia.

By Praxis fuer Humangenetik Wien in Austria.

PAX6
Specificity
100 %
Genes
20 %
Aniridia.

By Praxis fuer Humangenetik Wien in Austria.

PAX6
Specificity
100 %
Genes
20 %
Cataract with late-onset corneal dystrophy.

By Praxis fuer Humangenetik Wien in Austria.

PAX6
Specificity
100 %
Genes
20 %
Coloboma of optic nerve.

By Praxis fuer Humangenetik Wien in Austria.

PAX6
Specificity
100 %
Genes
20 %
Coloboma, ocular.

By Praxis fuer Humangenetik Wien in Austria.

PAX6
Specificity
100 %
Genes
20 %
Foveal hyperplasia.

By Praxis fuer Humangenetik Wien in Austria.

PAX6
Specificity
100 %
Genes
20 %
Gillespie syndrome.

By Praxis fuer Humangenetik Wien in Austria.

PAX6
Specificity
100 %
Genes
20 %
Keratitis.

By Praxis fuer Humangenetik Wien in Austria.

PAX6
Specificity
100 %
Genes
20 %
Optic nerve hypoplasia.

By Praxis fuer Humangenetik Wien in Austria.

PAX6
Specificity
100 %
Genes
20 %
Peters anomaly.

By Praxis fuer Humangenetik Wien in Austria.

PAX6
Specificity
100 %
Genes
20 %
Aniridia.

By MedGene in Slovakia.

PAX6
Specificity
100 %
Genes
20 %
Cataract with late-onset corneal dystrophy.

By MedGene in Slovakia.

PAX6
Specificity
100 %
Genes
20 %
Coloboma, ocular.

By MedGene in Slovakia.

PAX6
Specificity
100 %
Genes
20 %
Coloboma of optic nerve.

By MedGene in Slovakia.

PAX6
Specificity
100 %
Genes
20 %
Foveal hyperplasia.

By MedGene in Slovakia.

PAX6
Specificity
100 %
Genes
20 %
Gillespie syndrome.

By MedGene in Slovakia.

PAX6
Specificity
100 %
Genes
20 %
Keratitis.

By MedGene in Slovakia.

PAX6
Specificity
100 %
Genes
20 %
Optic nerve hypoplasia.

By MedGene in Slovakia.

PAX6
Specificity
100 %
Genes
20 %
Peters anomaly.

By MedGene in Slovakia.

PAX6
Specificity
100 %
Genes
20 %
Invitae Aniridia Test.

By Invitae in United States.

PAX6
Specificity
100 %
Genes
20 %
Invitae WAGR Syndrome Test.

By Invitae in United States.

PAX6, WT1
Specificity
50 %
Genes
20 %
Aniridia: PAX6 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PAX6
Specificity
100 %
Genes
20 %
Aniridia: PAX6 gene deletions-duplications analysis (MLPA).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PAX6
Specificity
100 %
Genes
20 %
Diabetes mellitus, neonatal permanent.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, RFX6, FOXP3, SLC19A2, PDX1, INS, KCNJ11, ABCC8, GCK, WFS1, HNF1B, PAX6, NEUROD1
Specificity
6 %
Genes
20 %
Septooptic dysplasia.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

LHX3, LHX4, GLI2, SOX3, FGF8, HESX1, SOX2, OTX2, PAX6
Specificity
12 %
Genes
20 %
Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RGS9BP, RBP4, CNNM4, PDE6H, RAX2, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
20 %
Retina/Photoreceptor Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

C8orf37-AS1, RGS9BP, PLA2G5, VCAN, CDH15, RBP4, GPR179, LRIT3, CNNM4, PDE6H, RAX2, UNC119, COL11A2, COL11A1, COL9A2, COL9A1, OFD1, ROM1, RBP3, PRPF3 , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
20 %
Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RGS9BP, RBP4, CNNM4, PDE6H, RAX2, UNC119, RDH5, CNGA3, PITPNM3, GUCA1A, RIMS1, CERKL, RGS9, SEMA4A, KCNV2, CABP4, CACNA2D4, ADAM9, PDE6C, CDHR1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
20 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
20 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
20 %
Septo-optic Dysplasia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

PROP1, HESX1, SOX2, OTX2, PAX6
Specificity
20 %
Genes
20 %
PAX6.

By Fulgent Genetics Fulgent Genetics in United States.

PAX6
Specificity
100 %
Genes
20 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
20 %
Ataxia Panel.

By Blueprint Genetics in Finland.

CWF19L1, TMEM240, SNX14, WDR81, RUBCN, LMNB1, ITM2B, STUB1, RNF216, ELOVL5, NOL3, GRID2, LAMA1, SLC52A2, EBF3, ATCAY, BEAN1, CAMTA1, ATP8A2, UBA5 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
20 %
Neuro-Ophthalmology Panel.

By Blueprint Genetics in Finland.

FDXR, SLC38A8, CHN1, ROBO3, ANTXR1, RTN4IP1, SLC25A46, SALL4, PRPS1, NR2F1, SETX, KIF21A, HESX1, SOX2, APTX, NDUFS1, TIMM8A, FRMD7, PHOX2A, TYMP , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
20 %
Septo-Optic Dysplasia Panel.

By Blueprint Genetics in Finland.

HESX1, SOX2, OTX2, PAX6
Specificity
25 %
Genes
20 %
Isolated aniridia.

By Bioarray in Spain.

PAX6
Specificity
100 %
Genes
20 %
Peters anomaly.

By Bioarray in Spain.

PAX6
Specificity
100 %
Genes
20 %
ANIRIDIA.

By Laboratorio de Genetica Clinica SL in Spain.

PAX6
Specificity
100 %
Genes
20 %
Aniridia, Sequencing PAX6 Gene.

By Reference Laboratory Genetics in Spain.

PAX6
Specificity
100 %
Genes
20 %
Foveal Hypoplasia and Presenile Cataract Syndrome Type 1 , Sequencing PAX6 Gene.

By Reference Laboratory Genetics in Spain.

PAX6
Specificity
100 %
Genes
20 %
Aniridia , Deletions-Duplications (MLPA) PAX6 Gene.

By Reference Laboratory Genetics in Spain.

PAX6
Specificity
100 %
Genes
20 %
Septo-Optic Dysplasia , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

LHX3, LHX4, GLI2, SOX3, FGF8, HESX1, SOX2, OTX2, PAX6
Specificity
12 %
Genes
20 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
20 %


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