Glaucoma 3, Primary Congenital, A; Glc3a

Description

Primary congenital glaucoma is the most common type of childhood glaucoma, with autosomal recessive inheritance and an incidence ranging from 1 in 30,000 to 1 in 1,250. Signs of the disease include early onset (birth to 3 years of age), increased intraocular pressure, increased corneal diameter, enlarged globe, Haab striae (breaks in Descemet membrane), corneal edema, and optic nerve head cupping. Congenital glaucoma is a chronic disease and a serious cause of blindness worldwide (summary by Azmanov et al., 2011). Genetic Heterogeneity of Primary Congenital GlaucomaPrimary congenital glaucoma-3B (GLC3B ) maps to chromosome 1p36.2-p36.1. GLC3C (OMIM ) maps to chromosome 14q24.3. GLC3D (OMIM ) is caused by mutation in the LTBP2 gene (OMIM ) located on chromosome 14q24 but outside the locus for GLC3C. GLC3E (OMIM ) is caused by mutation in the TEK gene (OMIM ) on chromosome 9p21.

Clinical Features

Phenotypes and symptoms related to Glaucoma 3, Primary Congenital, A; Glc3a

  • Glaucoma
  • Visual loss
  • Retinal detachment
  • Congenital glaucoma
  • Nevus flammeus
  • Increased intraocular pressure
  • Buphthalmos
  • Primary congenital glaucoma
  • Late onset congenital glaucoma

Incidence and onset information

— Based on the latest data available Glaucoma 3, Primary Congenital, A; Glc3a have a estimated birth prevalence of 3.6 per 100k worldwide.


Mendelian

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Glaucoma 3, Primary Congenital, A; Glc3a Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Optic Atrophy and Early Glaucoma Panel.

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

AUH, BEST1, C12orf65, PAX6, PITX3, OPTN, OPA1, WFS1, FOXC1, PITX2, MFRP, CYP1B1, POLG, OPA3, ACO2, MTPAP, TMEM126A, SPG7, CISD2, NDUFS1 , (...)

View the complete list with 14 more genes
Specificity
9 %
Genes
75 %
LTBP2. Complete sequencing.

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

LTBP2
Specificity
100 %
Genes
25 %
MYOC, CYP1B1, LTBP2, OPTN. NextGeneDx.Complete sequencing by NGS.

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

OPTN, CYP1B1, MYOC, LTBP2
Specificity
75 %
Genes
75 %
Primary Congenital Glaucoma (sequence analysis of LTBP2 gene).

By CGC Genetics in Portugal.

LTBP2
Specificity
100 %
Genes
25 %
Primary Congenital Glaucoma via the LTBP2 Gene.

By PreventionGenetics PreventionGenetics in United States.

LTBP2
Specificity
100 %
Genes
25 %
Glaucoma Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PAX6, OPTN, FOXC1, PITX2, MFRP, CYP1B1, LMX1B, MYOC, COL4A1, LTBP2, SLC4A4, SH3PXD2B, WDR36, COL8A2, ATOH7, OPTC, COL8A1
Specificity
18 %
Genes
75 %
Comprehensive Cardiology Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, TTR, GAA, COL3A1, ELN, EYA4, JAG1, DSP, SLC25A4, CRYAB, HADHA, RAF1, FBN1, GCKR, DNAJC19, SCO2, TAZ, COX15, CBS, ALMS1 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
25 %
Weill-Marchesani syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

FBN1, LTBP2, ADAMTS10, ADAMTS17
Specificity
25 %
Genes
25 %
Weill-Marchesani syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

FBN1, LTBP2, ADAMTS10, ADAMTS17
Specificity
25 %
Genes
25 %
Weill-Marchesani syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

FBN1, LTBP2, ADAMTS10, ADAMTS17
Specificity
25 %
Genes
25 %
Cataract.

By MGZ Medical Genetics Center in Germany.

EYA1, COL2A1, PAX6, ABCB6, WFS1, FOXC1, PITX2, NHS, CRYAB, OPA3, FYCO1, GJA3, GALK1, CYP27A1, SIX6, GLA, SLC33A1, SIL1, COL4A1, RAB3GAP1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
25 %
LTBP2-Related Primary Congenital Glaucoma.

By MGZ Medical Genetics Center in Germany.

LTBP2
Specificity
100 %
Genes
25 %
LTBP2-Related Weill-Marchesani Syndrome.

By MGZ Medical Genetics Center in Germany.

LTBP2
Specificity
100 %
Genes
25 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1 , (...)

View the complete list with 147 more genes
Specificity
2 %
Genes
75 %
Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome.

By MGZ Medical Genetics Center in Germany.

EYA1, PAX6, FOXC1, PITX2, CYP1B1, MYOC, COL4A1, FOXE3, LTBP2, B3GLCT, COL4A2, ASPH, SLC38A8, MIR184
Specificity
22 %
Genes
75 %
Microspherophakia and/or megalocornea.

By Centogene AG - the Rare Disease Company in Germany.

LTBP2
Specificity
100 %
Genes
25 %
Glaucoma, primary type 3D.

By Centogene AG - the Rare Disease Company in Germany.

LTBP2
Specificity
100 %
Genes
25 %
Weill-Marchesani syndrome 3.

By Centogene AG - the Rare Disease Company in Germany.

LTBP2
Specificity
100 %
Genes
25 %
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis.

By Asper Biogene Asper Biogene LLC in Estonia.

RAX, EYA1, VSX1, PAX6, ABCB6, FOXC1, PITX2, MFRP, OTX2, CYP1B1, STRA6, HCCS, BCOR, SIX6, SOX2, HESX1, CHD7, COL4A1, GDF6, FOXE3 , (...)

View the complete list with 15 more genes
Specificity
6 %
Genes
50 %
Glaucoma.

By Asper Biogene Asper Biogene LLC in Estonia.

BEST1, PAX6, PITX3, OPTN, FOXC1, PITX2, CYP1B1, LMX1B, MYOC, SBF2, CANT1, ACVR1, ASB10, LTBP2, SLC4A4, WDR36, COL18A1, LTBP3, NTF4, LOXL1
Specificity
15 %
Genes
75 %
Ectopia lentis gene package.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

FBN1, LTBP2, ADAMTSL4
Specificity
34 %
Genes
25 %
LTBP2 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

LTBP2
Specificity
100 %
Genes
25 %
Glaucoma 3, primary congenital, D: LTBP2 gene sequence analysis.

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

LTBP2
Specificity
100 %
Genes
25 %
Glaucoma.

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

PAX6, OPTN, OPA1, FOXC1, MFRP, CYP1B1, RPGRIP1, MYOC, ASB10, LTBP2, SH3PXD2B, VSX2, PRSS56, WDR36, COL8A2, OPTC, NTF4, LOXL1, OLFM2
Specificity
16 %
Genes
75 %
Glaucoma (Advance).

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

MTHFR, TTR, BEST1, PAX6, PITX3, OPTN, OPA1, FOXC1, MFRP, CYP1B1, RRM2B, RPGRIP1, CA4, LMX1B, MYOC, RPS19, SBF2, POMT1, ISPD, CANT1 , (...)

View the complete list with 14 more genes
Specificity
9 %
Genes
75 %
NGS panel - Ectopia lentis and/or Weill-Marchesani syndrome.

By Genome Diagnostics VU University Medical Center in Netherlands.

FBN1, CBS, ADAMTSL2, LTBP2, ADAMTSL4, ADAMTS10, ADAMTS17
Specificity
15 %
Genes
25 %
Lysosomal Storage Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, PSAP, GNPTAB, GLB1, GNE, SMPD1, FBN1, CTSD, GRN, HEXA, GM2A, HEXB, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MANBA , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
25 %
Glaucoma NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, TTR, BEST1, PAX6, PITX3, OPTN, OPA1, FOXC1, CYP1B1, RRM2B, CA4, LMX1B, MYOC, RPS19, SBF2, POMT1, ISPD, CANT1, ACVR1, LTBP2 , (...)

View the complete list with 5 more genes
Specificity
12 %
Genes
75 %
LTBP2.

By Fulgent Genetics Fulgent Genetics in United States.

LTBP2
Specificity
100 %
Genes
25 %
Glaucoma Panel.

By Blueprint Genetics in Finland.

PAX6, OPTN, OPA1, FOXC1, PITX2, CYP1B1, OPA3, TMEM126A, LMX1B, MYOC, COL4A1, CNTNAP2, TBK1, MAF, FOXE3, LTBP2, TEK, WDR36
Specificity
23 %
Genes
100 %
Skeletal Dysplasias Core Panel.

By Blueprint Genetics in Finland.

ALPL, ANKH, FKBP10, LRP5, COL2A1, COL1A1, COL1A2, TGFB1, TNFRSF11A, CLCN7, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, CTSK, CYP27B1, FAM20C, CA2 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
25 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
25 %
Micromelic Dysplasia Panel.

By Blueprint Genetics in Finland.

FBN1, FGFR3, SMAD4, PRKAR1A, SHOX, WDR35, SOX9, ADAMTSL2, IFT140, LTBP2, BMPR1B, WDR19, GNAS, IFT122, EXT1, WNT5A, ROR2, LIFR, SLC35D1, TRIP11 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
25 %
Ectopia Lentis Panel.

By Blueprint Genetics in Finland.

AASS, FBN1, BCOR, SUOX, CBS, PORCN, LTBP2, VSX2, COL18A1, ADAMTSL4, ADAMTS10, ASPH, P3H2, ADAMTS17
Specificity
8 %
Genes
25 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
25 %
Primary congenital glaucoma 3.

By Bioarray in Spain.

LTBP2
Specificity
100 %
Genes
25 %
GLAUCOMA, SECONDARY - MEGALOCORNEA - SPHEROPHAKIA.

By Laboratorio de Genetica Clinica SL in Spain.

LTBP2
Specificity
100 %
Genes
25 %
GLAUCOMA,PRIMARY.

By Laboratorio de Genetica Clinica SL in Spain.

CYP1B1, LTBP2
Specificity
100 %
Genes
50 %
Primary Congenital Glaucoma, Sequencing LTBP2 Gene.

By Reference Laboratory Genetics in Spain.

LTBP2
Specificity
100 %
Genes
25 %
Glaucoma , Panel Massive Sequencing (NGS) 17 Genes.

By Reference Laboratory Genetics in Spain.

PAX6, OPTN, OPA1, FOXC1, MFRP, CYP1B1, RPGRIP1, MYOC, ASB10, LTBP2, SH3PXD2B, VSX2, PRSS56, WDR36, COL8A2, NTF4, LOXL1
Specificity
18 %
Genes
75 %
Ectopia Lentis , Panel Massive Sequencing (NGS) ADAMTSL4, FBN1, LTBP2 Genes.

By Reference Laboratory Genetics in Spain.

FBN1, LTBP2, ADAMTSL4
Specificity
34 %
Genes
25 %
Weill-Marchesani Syndrome: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

FBN1, LTBP2, ADAMTS10
Specificity
34 %
Genes
25 %
Primary Congenital Glaucoma: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

CYP1B1, LTBP2, TEK
Specificity
100 %
Genes
75 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
50 %
Primary Open Angle Glaucoma (Adult onset).

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

OPTN, MYOC, WDR36
Specificity
34 %
Genes
25 %
Glaucoma 1, Open Angle, A.

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

MYOC
Specificity
100 %
Genes
25 %
MYOC Gene Sequencing.

By GeneDx in United States.

MYOC
Specificity
100 %
Genes
25 %
Glaucoma.

By Molecular Diagnostic Laboratory University of Alberta in Canada.

CYP1B1, MYOC
Specificity
100 %
Genes
50 %
MYOC mutation analysis.

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

MYOC
Specificity
100 %
Genes
25 %
MYOC. Complete sequencing.

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

MYOC
Specificity
100 %
Genes
25 %
Primary open angle glaucoma (sequence analysis MYOC gene).

By CGC Genetics in Portugal.

MYOC
Specificity
100 %
Genes
25 %
Primary open angle glaucoma juvenile onset 1.

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

MYOC
Specificity
100 %
Genes
25 %
Primary Open Angle Glaucoma via the MYOC Gene.

By PreventionGenetics PreventionGenetics in United States.

MYOC
Specificity
100 %
Genes
25 %
Glaucoma, open angle type 1A.

By Centogene AG - the Rare Disease Company in Germany.

MYOC
Specificity
100 %
Genes
25 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
50 %
Glaucoma 1A, juvenile-onset: MYOC gene sequence analysis.

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

MYOC
Specificity
100 %
Genes
25 %
Eye Disorders: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, RP1, GPR143 , (...)

View the complete list with 190 more genes
Specificity
1 %
Genes
50 %
Eye Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, PDZD7, RP1 , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
50 %
Eye Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, COL2A1, PAX6, CHM, RB1, RP1, OPTN, OPA1, WFS1, CC2D2A, FOXC1, ELOVL4, PITX2, ABCA4, JAG1 , (...)

View the complete list with 118 more genes
Specificity
2 %
Genes
50 %
MYOC.

By Fulgent Genetics Fulgent Genetics in United States.

MYOC
Specificity
100 %
Genes
25 %
Juvenile glaucoma.

By Bioarray in Spain.

MYOC
Specificity
100 %
Genes
25 %
GLAUCOMA, JUVENILE.

By Laboratorio de Genetica Clinica SL in Spain.

CYP1B1, MYOC
Specificity
100 %
Genes
50 %
GLAUCOMA, OPEN ANGLE.

By Laboratorio de Genetica Clinica SL in Spain.

OPTN, MYOC, ASB10, WDR36, NTF4
Specificity
20 %
Genes
25 %
Juvenile Glaucoma Type 1A , Sequencing MYOC Gene.

By Reference Laboratory Genetics in Spain.

MYOC
Specificity
100 %
Genes
25 %
NGS Vascular Disorders Panel.

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

PTEN, GJC2, SMAD4, GATA2, ENG, KRIT1, CCM2, PDCD10, FOXC2, RASA1, SOX18, CCBE1, ACVRL1, GDF2, GLMN, VEGFC, STAMBP, KIF11, PTPN14, TEK , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
25 %
TEK (TIE2) Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TEK
Specificity
100 %
Genes
25 %
Multiple Cutaneous and Mucosal Venous Malformations.

By Institute of Human Genetics Universitätsmedizin Greifswald in Germany.

TEK
Specificity
100 %
Genes
25 %
TEK.

By Institute for Human Genetics University Clinic Freiburg in Germany.

TEK
Specificity
100 %
Genes
25 %
Vascular Malformations Panel, Sequencing and Deletion/Duplication, 14 Genes.

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

PTEN, SMAD4, ENG, KRIT1, CCM2, PDCD10, RASA1, ACVRL1, GDF2, KCNK3, CAV1, BMPR2, GLMN, TEK
Specificity
8 %
Genes
25 %
Vascular Malformations NGS Multi-Gene Panel (21 Genes).

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

PTEN, SMAD4, ENG, KRIT1, CCM2, PDCD10, RASA1, SOX18, ACVRL1, GDF2, KCNK3, CAV1, BMPR2, GLMN, TEK, PIK3CA, GNAQ, KDR, MAP3K3, DOCK6 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
25 %
Glomuvenous malformations and Cutaneomucosal venous malformations Comprehensive panel.

By Connective Tissue Gene Tests in United States.

GLMN, TEK
Specificity
50 %
Genes
25 %
Glomuvenous malformations and Cutaneomucosal venous malformations NGS panel.

By Connective Tissue Gene Tests in United States.

GLMN, TEK
Specificity
50 %
Genes
25 %
Glomuvenous malformations and Cutaneomucosal venous malformations Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

GLMN, TEK
Specificity
50 %
Genes
25 %
Vascular malformations Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

PTEN, FOXF1, SMAD4, GATA2, ENG, KRIT1, CCM2, PDCD10, RASA1, ACVRL1, GDF2, KCNK3, CAV1, SMAD9, BMPR2, GLMN, TEK, EIF2AK4, ELMO2
Specificity
6 %
Genes
25 %
Vascular malformations NGS panel.

By Connective Tissue Gene Tests in United States.

PTEN, FOXF1, SMAD4, GATA2, ENG, KRIT1, CCM2, PDCD10, RASA1, ACVRL1, GDF2, KCNK3, CAV1, SMAD9, BMPR2, GLMN, TEK, EIF2AK4, ELMO2
Specificity
6 %
Genes
25 %
Vascular malformations Comprehensive panel.

By Connective Tissue Gene Tests in United States.

PTEN, FOXF1, SMAD4, GATA2, ENG, KRIT1, CCM2, PDCD10, RASA1, ACVRL1, GDF2, KCNK3, CAV1, SMAD9, BMPR2, GLMN, TEK, EIF2AK4, ELMO2
Specificity
6 %
Genes
25 %
Cutaneomucosal venous malformations Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

TEK
Specificity
100 %
Genes
25 %
Cutaneomucosal venous malformations Comprehensive test.

By Connective Tissue Gene Tests in United States.

TEK
Specificity
100 %
Genes
25 %
Cutaneomucosal venous malformations NGS test.

By Connective Tissue Gene Tests in United States.

TEK
Specificity
100 %
Genes
25 %
Single gene testing TEK.

By CeGaT GmbH in Germany.

TEK
Specificity
100 %
Genes
25 %
Venous malformation (TEK, GLMN).

By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium.

GLMN, TEK
Specificity
50 %
Genes
25 %
Glomuvenous Malformation (TEK, GLMN).

By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium.

GLMN, TEK
Specificity
50 %
Genes
25 %
TEK.

By Fulgent Genetics Fulgent Genetics in United States.

TEK
Specificity
100 %
Genes
25 %
Vascular Malformations Panel.

By Blueprint Genetics in Finland.

PTEN, SMAD4, ENG, KRIT1, CCM2, PDCD10, RASA1, SOX18, ACVRL1, GLMN, STAMBP, TEK, PIK3CA, ELMO2
Specificity
8 %
Genes
25 %
Solid Tumor Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, FOXL2, PPARG, WT1, RB1, RET, RAF1, IDH2, FGFR3, AR, BRAF, CREBBP, HRAS, KRAS , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
25 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
25 %
Multiple Cutaneous and Mucosal Venous Malformations: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TEK
Specificity
100 %
Genes
25 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
25 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
25 %
Axenfeld-Rieger syndrome.

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

PAX6, PITX3, FOXC1, PITX2, CYP1B1, FOXE3, B3GLCT
Specificity
15 %
Genes
25 %
Anterior segment defects.

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

EYA1, PAX6, PITX3, FOXC1, PITX2, CYP1B1, PAX2, PORCN, LAMB2, COL4A1, FOXE3, B3GLCT, KERA
Specificity
8 %
Genes
25 %
Primay Congenital Glaucoma.

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

CYP1B1
Specificity
100 %
Genes
25 %
Glaucoma (Primary Congenital), CYP1B1 Sequencing.

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

CYP1B1
Specificity
100 %
Genes
25 %
CYP1B1 Gene Sequencing.

By GeneDx in United States.

CYP1B1
Specificity
100 %
Genes
25 %
CYP1B1 mutation analysis.

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

CYP1B1
Specificity
100 %
Genes
25 %
CYP1B1. Complete sequencing.

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

CYP1B1
Specificity
100 %
Genes
25 %
Congenital glaucoma (deletion/duplication analysis of CYP1B1 gene).

By CGC Genetics in Portugal.

CYP1B1
Specificity
100 %
Genes
25 %
Congenital glaucoma (sequence analysis of CYP1B1 gene).

By CGC Genetics in Portugal.

CYP1B1
Specificity
100 %
Genes
25 %
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes).

By CGC Genetics in Portugal.

VSX1, PAX6, PITX3, FOXC1, PITX2, JAG1, CYP1B1, FGFR2, PTCH1, COL4A1, FOXE3, BMP4, B3GLCT, ASPH, PXDN, SLC38A8, MIR184, HMX1
Specificity
6 %
Genes
25 %
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes).

By CGC Genetics in Portugal.

VSX1, PAX6, PITX3, FOXC1, PITX2, JAG1, CYP1B1, FGFR2, PTCH1, COL4A1, FOXE3, BMP4, B3GLCT, ASPH, PXDN, SLC38A8, MIR184, HMX1
Specificity
6 %
Genes
25 %
Primary Congenital Glaucoma.

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

CYP1B1
Specificity
100 %
Genes
25 %
Irido-corneo-trabecular dysgenesis.

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

PAX6, CYP1B1
Specificity
50 %
Genes
25 %
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
25 %
Axenfeld-Rieger Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PAX6, FOXC1, PITX2, CYP1B1, COL4A1, FOXE3, SH3PXD2B, B3GLCT, ASPH
Specificity
12 %
Genes
25 %
Primary Congenital Glaucoma via CYP1B1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CYP1B1
Specificity
100 %
Genes
25 %
Peters Anomaly.

By MGZ Medical Genetics Center in Germany.

PAX6, CYP1B1
Specificity
50 %
Genes
25 %
CYP1B1-Related Primary Congenital Glaucoma.

By MGZ Medical Genetics Center in Germany.

CYP1B1
Specificity
100 %
Genes
25 %
Microphthalmia-Anophthalmia-Coloboma Complex (MAC).

By MGZ Medical Genetics Center in Germany.

FOXL2, RAX, ABCB6, OCRL, MFRP, NDP, OTX2, CYP1B1, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7, RAB3GAP1, SIX3, VPS13B , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
25 %
Axenfeld-Rieger syndrome type 3.

By Centogene AG - the Rare Disease Company in Germany.

CYP1B1
Specificity
100 %
Genes
25 %
Peters Anomaly.

By Centogene AG - the Rare Disease Company in Germany.

CYP1B1
Specificity
100 %
Genes
25 %
Glaucoma, primary type 3A.

By Centogene AG - the Rare Disease Company in Germany.

CYP1B1
Specificity
100 %
Genes
25 %
Rieger syndrome.

By Centogene AG - the Rare Disease Company in Germany.

CYP1B1
Specificity
100 %
Genes
25 %
Developmental Eye Disease panel.

By Molecular Vision Laboratory in United States.

RAX, PAX6, PITX3, ABCB6, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, SHH, CRX, STRA6, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7, FKTN , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
25 %
CYP1B1 single gene sequencing.

By Molecular Vision Laboratory in United States.

CYP1B1
Specificity
100 %
Genes
25 %
Glaucoma 3.

By Praxis fuer Humangenetik Wien in Austria.

CYP1B1
Specificity
100 %
Genes
25 %
Peters anomaly.

By Praxis fuer Humangenetik Wien in Austria.

CYP1B1
Specificity
100 %
Genes
25 %
Peters anomaly.

By Praxis fuer Humangenetik Wien in Austria.

CYP1B1
Specificity
100 %
Genes
25 %
Glaucoma 3.

By MedGene in Slovakia.

CYP1B1
Specificity
100 %
Genes
25 %
Peters anomaly.

By MedGene in Slovakia.

CYP1B1
Specificity
100 %
Genes
25 %
Peters anomaly.

By MedGene in Slovakia.

CYP1B1
Specificity
100 %
Genes
25 %
Invitae Early-Onset Glaucoma Panel.

By Invitae in United States.

FOXC1, PITX2, CYP1B1
Specificity
34 %
Genes
25 %
Glaucoma: CYP1B1 gene sequence analysis.

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

CYP1B1
Specificity
100 %
Genes
25 %
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PAX6, PITX3, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, STRA6, HCCS, BCOR, SOX2, COL4A1, FOXE3, VAX1, FREM1, VSX2, BMP4, B3GLCT, GRIP1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
25 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
25 %
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PAX6, PITX3, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, STRA6, HCCS, BCOR, SOX2, COL4A1, FOXE3, VAX1, FREM1, VSX2, BMP4, B3GLCT, GRIP1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
25 %
CYP1B1.

By Fulgent Genetics Fulgent Genetics in United States.

CYP1B1
Specificity
100 %
Genes
25 %
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel.

By Blueprint Genetics in Finland.

FOXL2, RAX, PAX6, ABCB6, OCRL, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
25 %
Primary congenital glaucoma 3A.

By Bioarray in Spain.

CYP1B1
Specificity
100 %
Genes
25 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
25 %
GLAUCOMA, CONGENITAL.

By Laboratorio de Genetica Clinica SL in Spain.

OPTN, CYP1B1
Specificity
50 %
Genes
25 %
Primary Congenital Glaucoma, Sequencing CYP1B1 Gene.

By Reference Laboratory Genetics in Spain.

CYP1B1
Specificity
100 %
Genes
25 %
Primary Congenital Glaucoma , Deletions-Duplications (MLPA) CYP1B1 Gene.

By Reference Laboratory Genetics in Spain.

CYP1B1
Specificity
100 %
Genes
25 %
Anterior Segment Dysgenesis (Peters Anomaly) , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

PAX6, PITX3, FOXC1, PITX2, CYP1B1, FOXE3, PXDN
Specificity
15 %
Genes
25 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
25 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
25 %

Alternate names

Glaucoma 3, Primary Congenital, A; Glc3a Is also known as glaucoma, congenital;glc3, buphthalmos;buphthalmia; buphthalmos; buphthalmus; primary congenital glaucoma.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1; FHBL1 MYOPATHY, DISTAL, 5; MPD5 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; CMT4B2 COFFIN-SIRIS SYNDROME 6; CSS6

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