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.
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
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).
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
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
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
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
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
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
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
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).
Most common symptoms of COLOBOMA OF IRIS
- Intellectual disability
- Microcephaly
- Growth delay
- Hypertelorism
- Nystagmus
More info about COLOBOMA OF IRIS
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
COLOBOMA OF EYELID
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
Search interest in PAX6
Potential gene panels for PAX6 gene
MitoMet®Plus aCGH Analysis Panel
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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
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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 panelOptic Atrophy and Early Glaucoma Panel Panel
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 panelPAX6-Related Disorders - PAX6 Sequencing Panel
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This panel specifically test the PAX6 gene.
More info about this panelPAX6-Related Disorders - Del/dup Analysis Panel
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This panel specifically test the PAX6 gene.
More info about this panelAxenfeld-Rieger syndrome Panel
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 panelAnterior segment defects Panel
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 panelAniridia Panel
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet
This panel specifically test the PAX6 gene.
More info about this panelPAX6 deletion/duplication analysis Panel
By Genetic Services Laboratory University of Chicago
This panel specifically test the PAX6 gene.
More info about this panelPAX6 sequencing Panel
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This panel specifically test the PAX6 gene.
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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 panelPAX6 Gene Sequencing Panel
By GeneDx
This panel specifically test the PAX6 gene.
More info about this panelPAX6 mutation analysis Panel
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This panel specifically test the PAX6 gene.
More info about this panelPAX6. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PAX6 gene.
More info about this panelPAX6. MLPA testing Panel
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This panel specifically test the PAX6 gene.
More info about this panelPAX6. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PAX6 gene.
More info about this panelAniridia (deletion/duplication analysis of PAX6 gene) Panel
By CGC Genetics
This panel specifically test the PAX6 gene.
More info about this panelAniridia (sequence analysis of PAX6 gene) Panel
By CGC Genetics
This panel specifically test the PAX6 gene.
More info about this panelPeters anomaly (sequence analysis of PAX6 gene) Panel
By CGC Genetics
This panel specifically test the PAX6 gene.
More info about this panelCataracts (NGS panel for 41 genes) Panel
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 panelColoboma of optic nerve (sequence analysis of PAX6 gene) Panel
By CGC Genetics
This panel specifically test the PAX6 gene.
More info about this panelDiabetes mellitus permanent neonatal (NGS panel for 13 genes) Panel
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 panelOptic nerve hypoplasia (deletion/duplication analysis on PAX6 gene) Panel
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This panel specifically test the PAX6 gene.
More info about this panelColoboma of optic disc (deletions/duplications analysis of PAX6 gene) Panel
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This panel specifically test the PAX6 gene.
More info about this panelSeptooptic dysplasia (NGS panel for 17 genes) Panel
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 panelOcular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) Panel
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 panelColoboma of optic disc (deletions/duplications analysis of PAX6 gene) Panel
By CGC Genetics
This panel specifically test the PAX6 gene.
More info about this panelOcular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) Panel
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 panelSeptooptic dysplasia (NGS panel for 17 genes) Panel
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 panelWilms' tumor Panel
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 panelIrido-corneo-trabecular dysgenesis Panel
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 panel11p partial monosomy syndrome Panel
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 panelCongenital aniridia Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the PAX6 gene.
More info about this panelFoveal hypoplasia and presenile cataract syndrome Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the PAX6 gene.
More info about this panelAniridia Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the PAX6 gene.
More info about this panelCataract with late-onset corneal dystrophy Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the PAX6 gene.
More info about this panelAxenfeld-Rieger Syndrome Sequencing Panel with CNV Detection Panel
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
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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 panelAniridia via PAX6 Gene Sequencing with CNV Detection Panel
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This panel specifically test the PAX6 gene.
More info about this panelCongenital Cataracts Sequencing Panel with CNV Detection Panel
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More info about this panelSepto-optic Dysplasia Spectrum Sequencing Panel with CNV Detection Panel
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By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the PAX6 gene.
More info about this panelWilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome Panel
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More info about this panelHereditary kidney disorders - different panels Panel
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 panelCataract Panel
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 panelPeters Anomaly Panel
By MGZ Medical Genetics Center Peters Anomaly that also includes the following genes: CYP1B1 PAX6
More info about this panelIsolated Aniridia Panel
By MGZ Medical Genetics Center
This panel specifically test the PAX6 gene.
More info about this panelPAX6-Related Anophthalmia Panel
By MGZ Medical Genetics Center
This panel specifically test the PAX6 gene.
More info about this panelFoveal Hypoplasia and Presenile Cataract Syndrome Panel
By MGZ Medical Genetics Center
This panel specifically test the PAX6 gene.
More info about this panelEye Diseases - panels Panel
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 panelAnterior Segment Dysgenesis, Axenfeld-Rieger Syndrome Panel
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 panelPAX6-Related Anophthalmia Panel
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 panelIsolated Aniridia Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the PAX6 gene.
More info about this panelCataract panel Panel
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 panelAxenfeld-Rieger syndrome type 3 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the PAX6 gene.
More info about this panelAniridia Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the PAX6 gene.
More info about this panelAllNeuro panel Panel
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 panelRieger syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the PAX6 gene.
More info about this panelAniridia Panel
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the PAX6 gene.
More info about this panelWAGR syndrome Panel
By bio.logis Center for Human Genetics Diagnosticum WAGR syndrome that also includes the following genes: WT1 PAX6
More info about this panelCataract Panel Panel
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 panelAtaxia and differential diagnoses Panel Panel
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 panelSingle gene testing PAX6 Panel
By CeGaT GmbH
This panel specifically test the PAX6 gene.
More info about this panelPAX6 Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the PAX6 gene.
More info about this panelAniridia Panel
By Asper Biogene Asper Biogene LLC
This panel specifically test the PAX6 gene.
More info about this panelAnophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis Panel
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 panelCataract Panel
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 panelGlaucoma Panel
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 panelEye diseases comprehensive panel Panel
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 panelAniridia, PAX6 sequencing Panel
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the PAX6 gene.
More info about this panelDevelopmental Eye Disease panel Panel
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 panelSepto-optic dysplasia Panel
By Molecular Vision Laboratory Septo-optic dysplasia that also includes the following genes: SOX2 HESX1 OTX2 PAX6
More info about this panelAniridia Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the PAX6 gene.
More info about this panelAniridia Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the PAX6 gene.
More info about this panelCataract with late-onset corneal dystrophy Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the PAX6 gene.
More info about this panelColoboma of optic nerve Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the PAX6 gene.
More info about this panelColoboma, ocular Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the PAX6 gene.
More info about this panelFoveal hyperplasia Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the PAX6 gene.
More info about this panelGillespie syndrome Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the PAX6 gene.
More info about this panelKeratitis Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the PAX6 gene.
More info about this panelOptic nerve hypoplasia Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the PAX6 gene.
More info about this panelPeters anomaly Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the PAX6 gene.
More info about this panelqChip Panel
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 panelqGenEx Craniofacial Anomalies Panel
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 panelAniridia Panel
By MedGene
This panel specifically test the PAX6 gene.
More info about this panelCataract with late-onset corneal dystrophy Panel
By MedGene
This panel specifically test the PAX6 gene.
More info about this panelColoboma, ocular Panel
By MedGene
This panel specifically test the PAX6 gene.
More info about this panelColoboma of optic nerve Panel
By MedGene
This panel specifically test the PAX6 gene.
More info about this panelFoveal hyperplasia Panel
By MedGene
This panel specifically test the PAX6 gene.
More info about this panelGillespie syndrome Panel
By MedGene
This panel specifically test the PAX6 gene.
More info about this panelKeratitis Panel
By MedGene
This panel specifically test the PAX6 gene.
More info about this panelOptic nerve hypoplasia Panel
By MedGene
This panel specifically test the PAX6 gene.
More info about this panelPeters anomaly Panel
By MedGene
This panel specifically test the PAX6 gene.
More info about this panelInvitae Aniridia Test Panel
By Invitae
This panel specifically test the PAX6 gene.
More info about this panelInvitae Congenital Cataracts Panel Panel
By Invitae Invitae Congenital Cataracts Panel that also includes the following genes: BFSP1 BFSP2 FYCO1 VSX2 BCOR AGK CRYAA CRYAB CRYBA1 CRYBB1
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By Invitae Invitae WAGR Syndrome Test that also includes the following genes: WT1 PAX6
More info about this panelAniridia: PAX6 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PAX6 gene.
More info about this panelAniridia: PAX6 gene deletions-duplications analysis (MLPA) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PAX6 gene.
More info about this panelDiabetes mellitus, neonatal permanent Panel
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
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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 panelGlaucoma (Advance) Panel
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 panelSeptooptic dysplasia Panel
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 panelAchromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel Panel
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 panelAnophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel Panel
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 panelEye Disorders: Comprehensive Sequencing Panel Panel
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 panelRetina/Photoreceptor Dystrophy: Sequencing Panel Panel
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 panelAchromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel Panel
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 panelAnophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel Panel
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 panelEye Disorders: Deletion/Duplication Panel Panel
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 panelEye Disorders NGS Panel Panel
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 panelEpilepsy NGS Panel Panel
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 panelGlaucoma NGS Panel Panel
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 panelIntellectual Disability NGS Panel Panel
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 panelSepto-optic Dysplasia NGS Panel Panel
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 panelPAX6 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PAX6 gene.
More info about this panelComprehensive Epilepsy NGS Panel Panel
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 panelAtaxia Panel Panel
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 panelNeuro-Ophthalmology Panel Panel
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 panelSepto-Optic Dysplasia Panel Panel
By Blueprint Genetics Septo-Optic Dysplasia Panel that also includes the following genes: SOX2 HESX1 OTX2 PAX6
More info about this panelMicrophthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel Panel
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 panelGlaucoma Panel Panel
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 panelCataract Panel Panel
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 panelIsolated aniridia Panel
By Bioarray
This panel specifically test the PAX6 gene.
More info about this panelPeters anomaly Panel
By Bioarray
This panel specifically test the PAX6 gene.
More info about this panelRapid microarray (CGH and SNP) Panel
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 panelHigh-Resolution Rapid Microarray (CGH and SNP) Panel
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 panelANOPHTHALMIA/ MICROPHTALMIA Panel
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 panelANIRIDIA Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the PAX6 gene.
More info about this panelANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL Panel
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 panelGLAUCOMA NGS ÀNEL Panel
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 panelAniridia, Sequencing PAX6 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the PAX6 gene.
More info about this panelFoveal Hypoplasia and Presenile Cataract Syndrome Type 1 , Sequencing PAX6 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the PAX6 gene.
More info about this panelAniridia , Deletions-Duplications (MLPA) PAX6 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the PAX6 gene.
More info about this panelGlaucoma , Panel Massive Sequencing (NGS) 17 Genes Panel
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 panelCongenital Cataracts , Panel Massive Sequencing (NGS) 40 Genes Panel
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 panelAnterior Segment Dysgenesis (Peters Anomaly) , Panel Massive Sequencing (NGS) 7 Genes Panel
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 panelSepto-Optic Dysplasia , Panel Massive Sequencing (NGS) 9 Genes Panel
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 panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
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