PAX6 gene related symptoms and diseases

All the information presented here about the PAX6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PAX6 gene

Symptoms // Phenotype % Cases
Nystagmus Uncommon - Between 30% and 50% cases
Reduced visual acuity Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Corneal opacity Uncommon - Between 30% and 50% cases
Microphthalmia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with PAX6 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Strabismus
  • Visual impairment
  • Aniridia
  • Coloboma
  • Rarely - Less than 30% cases

  • Retinal detachment
  • Peters anomaly
  • Microcornea
  • Glaucoma

And 195 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to PAX6 gene

Here you will find a list of rare diseases related to the PAX6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME


Alternate names

ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME Is also known as gillespie syndrome, aniridia, cerebellar ataxia, and mental retardation

Description

Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

Most common symptoms of ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


More info about ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME

SOURCES: MESH OMIM ORPHANET

FOVEAL HYPOPLASIA 1; FVH1


Alternate names

FOVEAL HYPOPLASIA 1; FVH1 Is also known as foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract

Description

Foveal hypoplasia is defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Foveal hypoplasia as an isolated entity is a rare phenomenon; it is usually described in association with other ocular disorders, such as aniridia (OMIM ), microphthalmia (see {251600}), albinism (see {203100}), or achromatopsia (see {216900}). All reported cases of foveal hypoplasia have been accompanied by decreased visual acuity and nystagmus (summary by Perez et al., 2014). Genetic Heterogeneity of Foveal HypoplasiaFoveal hypoplasia-2 (FVH2 ) is caused by mutation in the SLC38A8 gene (OMIM ) on chromosome 16q23.

Most common symptoms of FOVEAL HYPOPLASIA 1; FVH1

  • Nystagmus
  • Cataract
  • Visual impairment
  • Microphthalmia
  • Depressivity


More info about FOVEAL HYPOPLASIA 1; FVH1

SOURCES: OMIM

COLOBOMA OF MACULA


Alternate names

COLOBOMA OF MACULA Is also known as agenesis of macula

Description

Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.

Most common symptoms of COLOBOMA OF MACULA

  • Macular coloboma


More info about COLOBOMA OF MACULA

SOURCES: OMIM ORPHANET

AUTOSOMAL DOMINANT KERATITIS


Alternate names

AUTOSOMAL DOMINANT KERATITIS Is also known as hereditary keratitis

Description

Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia.

Most common symptoms of AUTOSOMAL DOMINANT KERATITIS

  • Hearing impairment
  • Corneal opacity
  • Ichthyosis
  • Opacification of the corneal stroma
  • Keratitis


More info about AUTOSOMAL DOMINANT KERATITIS

SOURCES: ORPHANET MESH OMIM

WAGR SYNDROME


Alternate names

WAGR SYNDROME Is also known as del(11)(p13), chromosome 11p13 deletion syndrome, wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome, monosomy 11p13, deletion 11p13, wagr syndrome

Description

WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.

Most common symptoms of WAGR SYNDROME

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


More info about WAGR SYNDROME

SOURCES: OMIM ORPHANET

ISOLATED ANIRIDIA


Alternate names

ISOLATED ANIRIDIA Is also known as an2, formerly, aniridia ii, formerly, an

Description

Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.

Most common symptoms of ISOLATED ANIRIDIA

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


More info about ISOLATED ANIRIDIA

SOURCES: OMIM ORPHANET

PETERS ANOMALY


Alternate names

PETERS ANOMALY Is also known as peters congenital glaucoma

Description

Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.

Most common symptoms of PETERS ANOMALY

  • Nystagmus
  • Strabismus
  • Cataract
  • Glaucoma
  • Reduced visual acuity


More info about PETERS ANOMALY

SOURCES: OMIM ORPHANET

ISOLATED OPTIC NERVE HYPOPLASIA/APLASIA


Most common symptoms of ISOLATED OPTIC NERVE HYPOPLASIA/APLASIA

  • Growth delay
  • Visual impairment
  • Ventriculomegaly
  • Reduced visual acuity
  • EEG abnormality


More info about ISOLATED OPTIC NERVE HYPOPLASIA/APLASIA

SOURCES: ORPHANET OMIM

COLOBOMA OF OPTIC NERVE


Most common symptoms of COLOBOMA OF OPTIC NERVE

  • Microphthalmia
  • Coloboma
  • Retinal detachment
  • Microcornea
  • Optic nerve coloboma


More info about COLOBOMA OF OPTIC NERVE

SOURCES: OMIM

MORNING GLORY SYNDROME


Alternate names

MORNING GLORY SYNDROME Is also known as ectasic coloboma, volubilis syndrome

Description

Morning glory syndrome (MGS) is an optic neuropathy characterized by a congenital funnel shaped excavation of the posterior fundus that incorporates the optic disc malformation (resembling the morning glory flower) MGS is usually unilateral and may result in a decrease in best-corrected visual acuity (BCVA). MGS either occurs isolated or associated to other ocular or non-ocular anomalies.

Most common symptoms of MORNING GLORY SYNDROME

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Depressed nasal bridge


More info about MORNING GLORY SYNDROME

SOURCES: ORPHANET

COLOBOMA OF EYE LENS



More info about COLOBOMA OF EYE LENS

SOURCES: ORPHANET

COLOBOMA OF IRIS


Alternate names

COLOBOMA OF IRIS Is also known as coloboma of iris, choroid, and retina, coi, coloboma, uveoretinal

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.

Most common symptoms of COLOBOMA OF IRIS

  • Intellectual disability
  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Nystagmus


More info about COLOBOMA OF IRIS

SOURCES: ORPHANET OMIM

FOVEAL HYPOPLASIA-PRESENILE CATARACT SYNDROME


Alternate names

FOVEAL HYPOPLASIA-PRESENILE CATARACT SYNDROME Is also known as o'donnell-pappas syndrome

Description

Foveal hypoplasia-presenile cataract syndrome is a rare, genetic ocular disease characterized by congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life), and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present.

Most common symptoms of FOVEAL HYPOPLASIA-PRESENILE CATARACT SYNDROME

  • Nystagmus
  • Strabismus
  • Cataract
  • Optic atrophy
  • Abnormality of the eye


More info about FOVEAL HYPOPLASIA-PRESENILE CATARACT SYNDROME

SOURCES: MESH ORPHANET

COLOBOMA OF CHOROID AND RETINA


Description

Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated.


More info about COLOBOMA OF CHOROID AND RETINA

SOURCES: ORPHANET

COLOBOMA OF OPTIC DISC


Alternate names

COLOBOMA OF OPTIC DISC Is also known as coloboma of optic papilla

Description

Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal).


More info about COLOBOMA OF OPTIC DISC

SOURCES: ORPHANET


Potential gene panels for PAX6 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations that also includes the following genes: SHH STIL SIX3 TUBA8 SLC25A19 DEAF1 ARFGEF2 RAB3GAP1 CENPJ NDE1

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5

More info about this panel

Optic Atrophy and Early Glaucoma Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Optic Atrophy and Early Glaucoma Panel that also includes the following genes: SLC4A4 SPG7 TBK1 ACO2 BEST1 WFS1 ACVR1 OPTN ASB10 MFRP

More info about this panel

PAX6-Related Disorders - PAX6 Sequencing Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the PAX6 gene.

More info about this panel

PAX6-Related Disorders - Del/dup Analysis Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the PAX6 gene.

More info about this panel

Axenfeld-Rieger syndrome Panel

Denmark.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet Axenfeld-Rieger syndrome that also includes the following genes: B3GLCT CYP1B1 FOXC1 FOXE3 PAX6 PITX2 PITX3

More info about this panel

Anterior segment defects Panel

Denmark.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet Anterior segment defects that also includes the following genes: PORCN B3GLCT COL4A1 CYP1B1 EYA1 FOXC1 FOXE3 KERA LAMB2 PAX2

More info about this panel

Aniridia Panel

Denmark.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet

This panel specifically test the PAX6 gene.

More info about this panel

PAX6 deletion/duplication analysis Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the PAX6 gene.

More info about this panel

PAX6 sequencing Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the PAX6 gene.

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

PAX6 Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the PAX6 gene.

More info about this panel

PAX6 mutation analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the PAX6 gene.

More info about this panel

PAX6. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PAX6 gene.

More info about this panel

PAX6. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PAX6 gene.

More info about this panel

PAX6. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PAX6 gene.

More info about this panel

Aniridia (deletion/duplication analysis of PAX6 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PAX6 gene.

More info about this panel

Aniridia (sequence analysis of PAX6 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PAX6 gene.

More info about this panel

Peters anomaly (sequence analysis of PAX6 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PAX6 gene.

More info about this panel

Cataracts (NGS panel for 41 genes) Panel

Portugal.

By CGC Genetics Cataracts (NGS panel for 41 genes) that also includes the following genes: BFSP1 BFSP2 VIM WFS1 FYCO1 PXDN CHMP4B P3H2 AGK SLC16A12

More info about this panel

Coloboma of optic nerve (sequence analysis of PAX6 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PAX6 gene.

More info about this panel

Diabetes mellitus permanent neonatal (NGS panel for 13 genes) Panel

Portugal.

By CGC Genetics Diabetes mellitus permanent neonatal (NGS panel for 13 genes) that also includes the following genes: SLC19A2 HNF1B IER3IP1 RFX6 PTF1A GLIS3 GATA6 GCK ABCC8 INS

More info about this panel

Optic nerve hypoplasia (deletion/duplication analysis on PAX6 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PAX6 gene.

More info about this panel

Coloboma of optic disc (deletions/duplications analysis of PAX6 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PAX6 gene.

More info about this panel

Septooptic dysplasia (NGS panel for 17 genes) Panel

Portugal.

By CGC Genetics Septooptic dysplasia (NGS panel for 17 genes) that also includes the following genes: SLC12A6 SOX2 SOX3 LHX4 EPG5 TAX1BP3 FGF8 FGFR2 GH1 GLI2

More info about this panel

Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) Panel

Portugal.

By CGC Genetics Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) that also includes the following genes: BMP4 VSX1 PXDN B3GLCT COL4A1 CYP1B1 MIR184 SLC38A8 FGFR2 FOXC1

More info about this panel

Coloboma of optic disc (deletions/duplications analysis of PAX6 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PAX6 gene.

More info about this panel

Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) Panel

Portugal.

By CGC Genetics Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) that also includes the following genes: BMP4 VSX1 PXDN B3GLCT COL4A1 CYP1B1 MIR184 SLC38A8 FGFR2 FOXC1

More info about this panel

Septooptic dysplasia (NGS panel for 17 genes) Panel

Portugal.

By CGC Genetics Septooptic dysplasia (NGS panel for 17 genes) that also includes the following genes: SLC12A6 SOX2 SOX3 LHX4 EPG5 TAX1BP3 FGF8 FGFR2 GH1 GLI2

More info about this panel

Wilms' tumor Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Wilms' tumor that also includes the following genes: WT1 PAX6

More info about this panel

Irido-corneo-trabecular dysgenesis Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Irido-corneo-trabecular dysgenesis that also includes the following genes: CYP1B1 PAX6

More info about this panel

11p partial monosomy syndrome Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders 11p partial monosomy syndrome that also includes the following genes: WT1 PAX6

More info about this panel

Congenital aniridia Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the PAX6 gene.

More info about this panel

Foveal hypoplasia and presenile cataract syndrome Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the PAX6 gene.

More info about this panel

Aniridia Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the PAX6 gene.

More info about this panel

Cataract with late-onset corneal dystrophy Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the PAX6 gene.

More info about this panel

Axenfeld-Rieger Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Axenfeld-Rieger Syndrome Sequencing Panel with CNV Detection that also includes the following genes: B3GLCT COL4A1 CYP1B1 SH3PXD2B FOXC1 FOXE3 ASPH PAX6 PITX2

More info about this panel

Glaucoma Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Glaucoma Sequencing Panel with CNV Detection that also includes the following genes: SLC4A4 ATOH7 OPTN MFRP COL4A1 COL8A1 COL8A2 CYP1B1 SH3PXD2B WDR36

More info about this panel

Aniridia via PAX6 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the PAX6 gene.

More info about this panel

Congenital Cataracts Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Cataracts Sequencing Panel with CNV Detection that also includes the following genes: BFSP1 BFSP2 VIM FYCO1 PXDN CHMP4B P3H2 AGK SLC16A12 CRYAA

More info about this panel

Septo-optic Dysplasia Spectrum Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Septo-optic Dysplasia Spectrum Sequencing Panel with CNV Detection that also includes the following genes: SOX2 HESX1 OTX2 PAX6 PROP1

More info about this panel

Aniridia Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the PAX6 gene.

More info about this panel

Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome that also includes the following genes: WT1 PAX6

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

Cataract Panel

Germany.

By MGZ Medical Genetics Center Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM WFS1 RAB18 FYCO1 JAM3 TBC1D20 CHMP4B

More info about this panel

Peters Anomaly Panel

Germany.

By MGZ Medical Genetics Center Peters Anomaly that also includes the following genes: CYP1B1 PAX6

More info about this panel

Isolated Aniridia Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the PAX6 gene.

More info about this panel

PAX6-Related Anophthalmia Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the PAX6 gene.

More info about this panel

Foveal Hypoplasia and Presenile Cataract Syndrome Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the PAX6 gene.

More info about this panel

Eye Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2

More info about this panel

Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome Panel

Germany.

By MGZ Medical Genetics Center Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome that also includes the following genes: B3GLCT COL4A1 COL4A2 CYP1B1 MIR184 SLC38A8 EYA1 FOXC1 FOXE3 LTBP2

More info about this panel

PAX6-Related Anophthalmia Panel

Germany.

By Bioscientia GmbH Center for Human Genetics PAX6-Related Anophthalmia that also includes the following genes: SIX6 SOX2 VSX2 OTX2 PAX6

More info about this panel

Isolated Aniridia Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the PAX6 gene.

More info about this panel

Cataract panel Panel

Germany.

By Centogene AG - the Rare Disease Company Cataract panel that also includes the following genes: BFSP1 BFSP2 VIM WFS1 UNC45B FYCO1 CHMP4B P3H2 VSX2 BCOR

More info about this panel

Axenfeld-Rieger syndrome type 3 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PAX6 gene.

More info about this panel

Aniridia Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PAX6 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Rieger syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PAX6 gene.

More info about this panel

Aniridia Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the PAX6 gene.

More info about this panel

WAGR syndrome Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum WAGR syndrome that also includes the following genes: WT1 PAX6

More info about this panel

Cataract Panel Panel

Germany.

By CeGaT GmbH Cataract Panel that also includes the following genes: BFSP1 BFSP2 VIM FYCO1 PXDN CHMP4B P3H2 BCOR AGK SLC16A12

More info about this panel

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

More info about this panel

Single gene testing PAX6 Panel

Germany.

By CeGaT GmbH

This panel specifically test the PAX6 gene.

More info about this panel

PAX6 Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the PAX6 gene.

More info about this panel

Aniridia Panel

Estonia.

By Asper Biogene Asper Biogene LLC

This panel specifically test the PAX6 gene.

More info about this panel

Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis Panel

Estonia.

By Asper Biogene Asper Biogene LLC Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis that also includes the following genes: BMP4 SIX6 SOX2 VAX1 VSX1 MFRP RAX VSX2 B3GLCT SMOC1

More info about this panel

Cataract Panel

Estonia.

By Asper Biogene Asper Biogene LLC Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM UNC45B FYCO1 PXDN CHMP4B P3H2 VSX2

More info about this panel

Glaucoma Panel

Estonia.

By Asper Biogene Asper Biogene LLC Glaucoma that also includes the following genes: SLC4A4 BEST1 ACVR1 OPTN ASB10 CANT1 SBF2 COL18A1 CYP1B1 WDR36

More info about this panel

Eye diseases comprehensive panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Aniridia, PAX6 sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the PAX6 gene.

More info about this panel

Developmental Eye Disease panel Panel

United States.

By Molecular Vision Laboratory Developmental Eye Disease panel that also includes the following genes: BMP4 SHH SIX3 SIX6 SLC25A1 SNX3 SOX2 SOX3 ELP4 VAX1

More info about this panel

Septo-optic dysplasia Panel

United States.

By Molecular Vision Laboratory Septo-optic dysplasia that also includes the following genes: SOX2 HESX1 OTX2 PAX6

More info about this panel

Aniridia Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PAX6 gene.

More info about this panel

Aniridia Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PAX6 gene.

More info about this panel

Cataract with late-onset corneal dystrophy Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PAX6 gene.

More info about this panel

Coloboma of optic nerve Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PAX6 gene.

More info about this panel

Coloboma, ocular Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PAX6 gene.

More info about this panel

Foveal hyperplasia Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PAX6 gene.

More info about this panel

Gillespie syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PAX6 gene.

More info about this panel

Keratitis Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PAX6 gene.

More info about this panel

Optic nerve hypoplasia Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PAX6 gene.

More info about this panel

Peters anomaly Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PAX6 gene.

More info about this panel

qChip Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1

More info about this panel

qGenEx Craniofacial Anomalies Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3

More info about this panel

Aniridia Panel

Slovakia.

By MedGene

This panel specifically test the PAX6 gene.

More info about this panel

Cataract with late-onset corneal dystrophy Panel

Slovakia.

By MedGene

This panel specifically test the PAX6 gene.

More info about this panel

Coloboma, ocular Panel

Slovakia.

By MedGene

This panel specifically test the PAX6 gene.

More info about this panel

Coloboma of optic nerve Panel

Slovakia.

By MedGene

This panel specifically test the PAX6 gene.

More info about this panel

Foveal hyperplasia Panel

Slovakia.

By MedGene

This panel specifically test the PAX6 gene.

More info about this panel

Gillespie syndrome Panel

Slovakia.

By MedGene

This panel specifically test the PAX6 gene.

More info about this panel

Keratitis Panel

Slovakia.

By MedGene

This panel specifically test the PAX6 gene.

More info about this panel

Optic nerve hypoplasia Panel

Slovakia.

By MedGene

This panel specifically test the PAX6 gene.

More info about this panel

Peters anomaly Panel

Slovakia.

By MedGene

This panel specifically test the PAX6 gene.

More info about this panel

Invitae Aniridia Test Panel

United States.

By Invitae

This panel specifically test the PAX6 gene.

More info about this panel

Invitae Congenital Cataracts Panel Panel

United States.

By Invitae Invitae Congenital Cataracts Panel that also includes the following genes: BFSP1 BFSP2 FYCO1 VSX2 BCOR AGK CRYAA CRYAB CRYBA1 CRYBB1

More info about this panel

Invitae WAGR Syndrome Test Panel

United States.

By Invitae Invitae WAGR Syndrome Test that also includes the following genes: WT1 PAX6

More info about this panel

Aniridia: PAX6 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the PAX6 gene.

More info about this panel

Aniridia: PAX6 gene deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the PAX6 gene.

More info about this panel

Diabetes mellitus, neonatal permanent Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Diabetes mellitus, neonatal permanent that also includes the following genes: SLC19A2 HNF1B WFS1 NEUROG3 RFX6 PTF1A GLIS3 EIF2AK3 GATA6 GCK

More info about this panel

Glaucoma Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Glaucoma that also includes the following genes: RPGRIP1 OPTN ASB10 OLFM2 MFRP VSX2 COL8A2 CYP1B1 SH3PXD2B WDR36

More info about this panel

Glaucoma (Advance) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Glaucoma (Advance) that also includes the following genes: RPS19 SLC4A4 TTR BEST1 RPGRIP1 CA4 ACVR1 OPTN ASB10 OLFM2

More info about this panel

Septooptic dysplasia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Septooptic dysplasia that also includes the following genes: SOX2 SOX3 LHX4 FGF8 GLI2 HESX1 LHX3 OTX2 PAX6

More info about this panel

Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1

More info about this panel

Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel that also includes the following genes: BMP4 SOX2 VAX1 MFRP GRIP1 FRAS1 VSX2 B3GLCT SMOC1 BCOR

More info about this panel

Eye Disorders: Comprehensive Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

More info about this panel

Retina/Photoreceptor Dystrophy: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Retina/Photoreceptor Dystrophy: Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4

More info about this panel

Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1

More info about this panel

Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel that also includes the following genes: BMP4 SOX2 VAX1 MFRP GRIP1 FRAS1 VSX2 B3GLCT SMOC1 BCOR

More info about this panel

Eye Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

More info about this panel

Eye Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4

More info about this panel

Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

More info about this panel

Glaucoma NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Glaucoma NGS Panel that also includes the following genes: RPS19 SLC4A4 TTR BEST1 CA4 ACVR1 OPTN RRM2B CANT1 SBF2

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

Septo-optic Dysplasia NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Septo-optic Dysplasia NGS Panel that also includes the following genes: SOX2 HESX1 OTX2 PAX6 PROP1

More info about this panel

PAX6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PAX6 gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel

Ataxia Panel Panel

Finland.

By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2

More info about this panel

Neuro-Ophthalmology Panel Panel

Finland.

By Blueprint Genetics Neuro-Ophthalmology Panel that also includes the following genes: SLC25A4 SOX2 SPG7 TWNK ACO2 TIMM8A TK2 WFS1 ROBO3 SALL4

More info about this panel

Septo-Optic Dysplasia Panel Panel

Finland.

By Blueprint Genetics Septo-Optic Dysplasia Panel that also includes the following genes: SOX2 HESX1 OTX2 PAX6

More info about this panel

Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel Panel

Finland.

By Blueprint Genetics Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel that also includes the following genes: BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A ZIC2 PXDN

More info about this panel

Glaucoma Panel Panel

Finland.

By Blueprint Genetics Glaucoma Panel that also includes the following genes: TBK1 TEK CNTNAP2 OPTN COL4A1 TMEM126A CYP1B1 WDR36 FOXC1 FOXE3

More info about this panel

Cataract Panel Panel

Finland.

By Blueprint Genetics Cataract Panel that also includes the following genes: BFSP1 BFSP2 TFAP2A VIM WFS1 WRN FYCO1 PXDN CHMP4B RAB3GAP1

More info about this panel

Isolated aniridia Panel

Spain.

By Bioarray

This panel specifically test the PAX6 gene.

More info about this panel

Peters anomaly Panel

Spain.

By Bioarray

This panel specifically test the PAX6 gene.

More info about this panel

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

ANOPHTHALMIA/ MICROPHTALMIA Panel

Spain.

By Laboratorio de Genetica Clinica SL ANOPHTHALMIA/ MICROPHTALMIA that also includes the following genes: SHH SIX3 SIX6 SOX2 RAX VSX2 HESX1 OTX2 PAX6

More info about this panel

ANIRIDIA Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the PAX6 gene.

More info about this panel

ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL that also includes the following genes: SALL1 SALL2 BMP4 SHH SIX6 SOX2 PXDN MFRP RAX NAA10

More info about this panel

GLAUCOMA NGS ÀNEL Panel

Spain.

By Laboratorio de Genetica Clinica SL GLAUCOMA NGS ÀNEL that also includes the following genes: SLC4A4 TEK BEST1 ACVR1 OPTN ASB10 MFRP CANT1 SBF2 COL18A1

More info about this panel

Aniridia, Sequencing PAX6 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PAX6 gene.

More info about this panel

Foveal Hypoplasia and Presenile Cataract Syndrome Type 1 , Sequencing PAX6 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PAX6 gene.

More info about this panel

Aniridia , Deletions-Duplications (MLPA) PAX6 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PAX6 gene.

More info about this panel

Glaucoma , Panel Massive Sequencing (NGS) 17 Genes Panel

Spain.

By Reference Laboratory Genetics Glaucoma , Panel Massive Sequencing (NGS) 17 Genes that also includes the following genes: RPGRIP1 OPTN ASB10 MFRP VSX2 COL8A2 CYP1B1 SH3PXD2B WDR36 FOXC1

More info about this panel

Congenital Cataracts , Panel Massive Sequencing (NGS) 40 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Cataracts , Panel Massive Sequencing (NGS) 40 Genes that also includes the following genes: BFSP1 BFSP2 VIM FYCO1 PXDN CHMP4B P3H2 AGK SLC16A12 CRYAA

More info about this panel

Anterior Segment Dysgenesis (Peters Anomaly) , Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

By Reference Laboratory Genetics Anterior Segment Dysgenesis (Peters Anomaly) , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: PXDN CYP1B1 FOXC1 FOXE3 PAX6 PITX2 PITX3

More info about this panel

Septo-Optic Dysplasia , Panel Massive Sequencing (NGS) 9 Genes Panel

Spain.

By Reference Laboratory Genetics Septo-Optic Dysplasia , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: SOX2 SOX3 LHX4 FGF8 GLI2 HESX1 LHX3 OTX2 PAX6

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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