Coloboma, Ocular, Autosomal Dominant

Description

Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of one or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014). Genetic Heterogeneity of Ocular ColobomaA recessive form of ocular coloboma (OMIM ) is caused by mutation in the SALL2 gene (OMIM ) on chromosome 14q11.

Clinical Features

Top most frequent phenotypes and symptoms related to Coloboma, Ocular, Autosomal Dominant

  • Intellectual disability
  • Pica
  • Microcephaly
  • Hypertelorism
  • Growth delay
  • Nystagmus
  • Ptosis
  • Abnormal facial shape
  • Spasticity
  • Nevus
And another 25 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available Coloboma, Ocular, Autosomal Dominant have a estimated birth prevalence of 8 per 100k worldwide.


Mendelian

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Coloboma, Ocular, Autosomal Dominant Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations.

By Athena Diagnostics Inc in United States.

PAX6, CPT2, SHH, SLC25A19, TUBA1A, FGFR3, ARX, WDR62, FKTN, PEX7, POMGNT1, DPYD, FKRP, POMT2, POMT1, LAMA2, LARGE1, MCPH1, ASPM, FOLR1 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2 , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
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
3 %
Genes
100 %
PAX6-Related Disorders - PAX6 Sequencing.

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

PAX6
Specificity
100 %
Genes
100 %
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
100 %
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
100 %
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
100 %
Aniridia.

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

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

By Genetic Services Laboratory University of Chicago in United States.

PAX6
Specificity
100 %
Genes
100 %
PAX6 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

PAX6
Specificity
100 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
PAX6 Gene Sequencing.

By GeneDx in United States.

PAX6
Specificity
100 %
Genes
100 %
PAX6 mutation analysis.

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

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

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

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

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

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

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

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

By CGC Genetics in Portugal.

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

By CGC Genetics in Portugal.

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

By CGC Genetics in Portugal.

PAX6
Specificity
100 %
Genes
100 %
Cataracts (NGS panel for 41 genes).

By CGC Genetics in Portugal.

EYA1, PAX6, PITX3, WFS1, NHS, CRYAB, AGK, FYCO1, GJA3, GALT, GALK1, SIL1, MAF, FOXE3, CTDP1, FTL, CRYBA4, GJA8, GCNT2, CRYBB1 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Coloboma of optic nerve (sequence analysis of PAX6 gene).

By CGC Genetics in Portugal.

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

By CGC Genetics in Portugal.

PAX6, HNF1B, GCK, ABCC8, KCNJ11, INS, PDX1, SLC19A2, IER3IP1, RFX6, GLIS3, PTF1A, GATA6
Specificity
8 %
Genes
100 %
Optic nerve hypoplasia (deletion/duplication analysis on PAX6 gene).

By CGC Genetics in Portugal.

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

By CGC Genetics in Portugal.

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

By CGC Genetics in Portugal.

PAX6, OTX2, SOX2, HESX1, FGFR2, PROP1, SLC12A6, FGF8, ANOS1, POU1F1, GH1, SOX3, GLI2, LHX4, LHX3, EPG5, TAX1BP3
Specificity
6 %
Genes
100 %
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
100 %
Coloboma of optic disc (deletions/duplications analysis of PAX6 gene).

By CGC Genetics in Portugal.

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

By CGC Genetics in Portugal.

PAX6, OTX2, SOX2, HESX1, FGFR2, PROP1, SLC12A6, FGF8, ANOS1, POU1F1, GH1, SOX3, GLI2, LHX4, LHX3, EPG5, TAX1BP3
Specificity
6 %
Genes
100 %
Wilms' tumor.

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

WT1, PAX6
Specificity
50 %
Genes
100 %
Irido-corneo-trabecular dysgenesis.

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

PAX6, CYP1B1
Specificity
50 %
Genes
100 %
11p partial monosomy syndrome.

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

WT1, PAX6
Specificity
50 %
Genes
100 %
Congenital aniridia.

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

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

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

PAX6
Specificity
100 %
Genes
100 %
Aniridia.

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

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

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

PAX6
Specificity
100 %
Genes
100 %
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
100 %
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
6 %
Genes
100 %
Aniridia via PAX6 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PAX6
Specificity
100 %
Genes
100 %
Congenital Cataracts Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, GALK1, SLC33A1, SIL1, MAF, FOXE3, CTDP1, CRYBA4, FAM126A, GJA8, GCNT2, CRYBB1, CRYBB3 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
Septo-optic Dysplasia Spectrum Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PAX6, OTX2, SOX2, HESX1, PROP1
Specificity
20 %
Genes
100 %
Aniridia.

By Institute of Human Genetics Cologne University in Germany.

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

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
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
100 %
Peters Anomaly.

By MGZ Medical Genetics Center in Germany.

PAX6, CYP1B1
Specificity
50 %
Genes
100 %
Isolated Aniridia.

By MGZ Medical Genetics Center in Germany.

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

By MGZ Medical Genetics Center in Germany.

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

By MGZ Medical Genetics Center in Germany.

PAX6
Specificity
100 %
Genes
100 %
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
1 %
Genes
100 %
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
8 %
Genes
100 %
PAX6-Related Anophthalmia.

By Bioscientia GmbH Center for Human Genetics in Germany.

PAX6, OTX2, SIX6, SOX2, VSX2
Specificity
20 %
Genes
100 %
Isolated Aniridia.

By Bioscientia GmbH Center for Human Genetics in Germany.

PAX6
Specificity
100 %
Genes
100 %
Cataract panel.

By Centogene AG - the Rare Disease Company in Germany.

EYA1, PAX6, PITX3, WFS1, FOXC1, NHS, CRYAB, AGK, FYCO1, GJA3, BCOR, GALK1, MAF, FOXE3, CTDP1, FTL, VSX2, CRYBA4, GJA8, GCNT2 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Axenfeld-Rieger syndrome type 3.

By Centogene AG - the Rare Disease Company in Germany.

PAX6
Specificity
100 %
Genes
100 %
Aniridia.

By Centogene AG - the Rare Disease Company in Germany.

PAX6
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Rieger syndrome.

By Centogene AG - the Rare Disease Company in Germany.

PAX6
Specificity
100 %
Genes
100 %
Aniridia.

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

PAX6
Specificity
100 %
Genes
100 %
WAGR syndrome.

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

WT1, PAX6
Specificity
50 %
Genes
100 %
Cataract Panel.

By CeGaT GmbH in Germany.

EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, BCOR, GALK1, SIL1, MAF, FOXE3, FTL, CRYBA4, GJA8, GCNT2, CRYBB1, CRYBB3, TDRD7 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

FMR1, AARS2, ABHD12, UQCRQ, BTD, ATP7B, AUH, TWNK, PRKCG, PAX6, INPP5E, AMACR, OPA1, WFS1, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
100 %
Single gene testing PAX6.

By CeGaT GmbH in Germany.

PAX6
Specificity
100 %
Genes
100 %
PAX6.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PAX6
Specificity
100 %
Genes
100 %
Aniridia.

By Asper Biogene Asper Biogene LLC in Estonia.

PAX6
Specificity
100 %
Genes
100 %
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
3 %
Genes
100 %
Cataract.

By Asper Biogene Asper Biogene LLC in Estonia.

EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, BCOR, GALK1, SIX6, SIL1, MAF, CTDP1, GJA1, FTL, VSX2, CRYBA4, GJA8, GCNT2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
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
5 %
Genes
100 %
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
100 %
Aniridia, PAX6 sequencing.

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

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

By Molecular Vision Laboratory in United States.

PAX6, OTX2, SOX2, HESX1
Specificity
25 %
Genes
100 %
Aniridia.

By Praxis fuer Humangenetik Wien in Austria.

PAX6
Specificity
100 %
Genes
100 %
Aniridia.

By Praxis fuer Humangenetik Wien in Austria.

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

By Praxis fuer Humangenetik Wien in Austria.

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

By Praxis fuer Humangenetik Wien in Austria.

PAX6
Specificity
100 %
Genes
100 %
Coloboma, ocular.

By Praxis fuer Humangenetik Wien in Austria.

PAX6
Specificity
100 %
Genes
100 %
Foveal hyperplasia.

By Praxis fuer Humangenetik Wien in Austria.

PAX6
Specificity
100 %
Genes
100 %
Gillespie syndrome.

By Praxis fuer Humangenetik Wien in Austria.

PAX6
Specificity
100 %
Genes
100 %
Keratitis.

By Praxis fuer Humangenetik Wien in Austria.

PAX6
Specificity
100 %
Genes
100 %
Optic nerve hypoplasia.

By Praxis fuer Humangenetik Wien in Austria.

PAX6
Specificity
100 %
Genes
100 %
Peters anomaly.

By Praxis fuer Humangenetik Wien in Austria.

PAX6
Specificity
100 %
Genes
100 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

FMR1, UBE3A, APC, PTEN, TP53, FOXL2, EYA1, COL2A1, OCA2, APP, WT1, PAX6, RB1, LEMD3, HNF1B, ELN, OCRL, PITX2, JAG1, NDP , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
100 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
100 %
Aniridia.

By MedGene in Slovakia.

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

By MedGene in Slovakia.

PAX6
Specificity
100 %
Genes
100 %
Coloboma, ocular.

By MedGene in Slovakia.

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

By MedGene in Slovakia.

PAX6
Specificity
100 %
Genes
100 %
Foveal hyperplasia.

By MedGene in Slovakia.

PAX6
Specificity
100 %
Genes
100 %
Gillespie syndrome.

By MedGene in Slovakia.

PAX6
Specificity
100 %
Genes
100 %
Keratitis.

By MedGene in Slovakia.

PAX6
Specificity
100 %
Genes
100 %
Optic nerve hypoplasia.

By MedGene in Slovakia.

PAX6
Specificity
100 %
Genes
100 %
Peters anomaly.

By MedGene in Slovakia.

PAX6
Specificity
100 %
Genes
100 %
Invitae Aniridia Test.

By Invitae in United States.

PAX6
Specificity
100 %
Genes
100 %
Invitae Congenital Cataracts Panel.

By Invitae in United States.

PAX6, PITX3, OCRL, FOXC1, PITX2, NHS, CRYAB, AGK, FYCO1, GJA3, BCOR, GALK1, SIL1, MAF, CTDP1, VSX2, FAM126A, GJA8, GCNT2, CRYBB1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Invitae WAGR Syndrome Test.

By Invitae in United States.

WT1, PAX6
Specificity
50 %
Genes
100 %
Aniridia: PAX6 gene sequence analysis.

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

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

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

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

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

NEUROD1, PAX6, HNF1B, WFS1, GCK, ABCC8, KCNJ11, INS, PDX1, SLC19A2, FOXP3, RFX6, GLIS3, NEUROG3, PTF1A, GATA6, EIF2AK3
Specificity
6 %
Genes
100 %
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
6 %
Genes
100 %
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
3 %
Genes
100 %
Septooptic dysplasia.

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

PAX6, OTX2, SOX2, HESX1, FGF8, SOX3, GLI2, LHX4, LHX3
Specificity
12 %
Genes
100 %
Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AIPL1, BEST1, PAX6, ABCA4, CACNA1F, CNGB3, CEP290, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GUCA1B, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
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
100 %
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
100 %
Retina/Photoreceptor Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZNF513, AIPL1, BEST1, SPATA7, LRP5, COL2A1, PAX6, CHM, RP1, OPA1, ELOVL4, ABCA4, CACNA1F, NDP, OTX2, CNGB3, KCNJ13, CEP290, CLRN1, TTC8 , (...)

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

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AIPL1, BEST1, PAX6, ABCA4, CACNA1F, CNGB3, CEP290, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GUCA1B, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
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
100 %
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
100 %
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
1 %
Genes
100 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
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
4 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
Septo-optic Dysplasia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

PAX6, OTX2, SOX2, HESX1, PROP1
Specificity
20 %
Genes
100 %
PAX6.

By Fulgent Genetics Fulgent Genetics in United States.

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

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
100 %
Ataxia Panel.

By Blueprint Genetics in Finland.

FMR1, ABHD12, TWNK, PRKCG, PAX6, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4, TMEM67, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, POLG, NDUFS4, AFG3L2 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
100 %
Neuro-Ophthalmology Panel.

By Blueprint Genetics in Finland.

TWNK, C12orf65, PAX6, TUBB3, GPR143, OPA1, WFS1, OTX2, POLG, SLC25A4, RRM2B, MFN2, OPA3, ACO2, TMEM126A, TK2, SPG7, CISD2, TYMP, PHOX2A , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Septo-Optic Dysplasia Panel.

By Blueprint Genetics in Finland.

PAX6, OTX2, SOX2, HESX1
Specificity
25 %
Genes
100 %
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
100 %
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
6 %
Genes
100 %
Cataract Panel.

By Blueprint Genetics in Finland.

RECQL4, EYA1, COL2A1, PAX6, PITX3, ABCB6, WFS1, OCRL, NDP, NHS, CRYAB, OPA3, AGK, ALDH18A1, TMEM70, FYCO1, GJA3, BCOR, GALT, GALE , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Isolated aniridia.

By Bioarray in Spain.

PAX6
Specificity
100 %
Genes
100 %
Peters anomaly.

By Bioarray in Spain.

PAX6
Specificity
100 %
Genes
100 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
ANIRIDIA.

By Laboratorio de Genetica Clinica SL in Spain.

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

By Reference Laboratory Genetics in Spain.

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

By Reference Laboratory Genetics in Spain.

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

By Reference Laboratory Genetics in Spain.

PAX6
Specificity
100 %
Genes
100 %
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
6 %
Genes
100 %
Congenital Cataracts , Panel Massive Sequencing (NGS) 40 Genes.

By Reference Laboratory Genetics in Spain.

EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, GALK1, SLC33A1, SIL1, MAF, FOXE3, CTDP1, CRYBA4, FAM126A, GJA8, GCNT2, CRYBB1, CRYBB3 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
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
100 %
Septo-Optic Dysplasia , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

PAX6, OTX2, SOX2, HESX1, FGF8, SOX3, GLI2, LHX4, LHX3
Specificity
12 %
Genes
100 %
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
100 %

Alternate names

Coloboma, Ocular, Autosomal Dominant Is also known as coloboma, uveoretinal, coloboma of iris, choroid, and retina;coi.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH EPISODIC PAIN SYNDROME, FAMILIAL, 2; FEPS2 GLUTATHIONE PEROXIDASE DEFICIENCY; GPXD

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