OTX2 gene related symptoms and diseases
All the information presented here about the OTX2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to OTX2 gene
Symptoms // Phenotype | % Cases |
---|---|
Short stature | Common - Between 50% and 80% cases |
Agenesis of corpus callosum | Common - Between 50% and 80% cases |
Intellectual disability | Uncommon - Between 30% and 50% cases |
Optic nerve hypoplasia | Uncommon - Between 30% and 50% cases |
Seizures | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with OTX2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Ectopic posterior pituitary
Rarely - Less than 30% cases
- Sensorineural hearing impairment
- Anterior pituitary hypoplasia
- Global developmental delay
- Nystagmus
- Strabismus
- Respiratory distress
- Cleft palate
And 135 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to OTX2 gene
Here you will find a list of rare diseases related to the OTX2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AGNATHIA-HOLOPROSENCEPHALY-SITUS INVERSUS SYNDROME
Description
Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.
Most common symptoms of AGNATHIA-HOLOPROSENCEPHALY-SITUS INVERSUS SYNDROME
- Respiratory distress
- Agenesis of corpus callosum
- Narrow mouth
- Polyhydramnios
- Low-set, posteriorly rotated ears
More info about AGNATHIA-HOLOPROSENCEPHALY-SITUS INVERSUS SYNDROME
SOURCES: ORPHANET
MICROPHTHALMIA, ISOLATED 1; MCOP1
Alternate names
MICROPHTHALMIA, ISOLATED 1; MCOP1 Is also known as anophthalmia, clinical, isolated, microphthalmos, autosomal recessive, mcop
Description
Microphthalmia designates a heterogeneous group of ocular malformations with a more or less evident reduction in the size of the eyeball. Additional features include high hypermetropia and a short axial length. The size of the anterior chamber and the cornea may also be reduced, whereas the lens is normal or thicker than usual for age (summary by Fuchs et al., 2005).
Most common symptoms of MICROPHTHALMIA, ISOLATED 1; MCOP1
- Microphthalmia
- Glaucoma
- Coloboma
- Hypermetropia
- Anophthalmia
More info about MICROPHTHALMIA, ISOLATED 1; MCOP1
SEPTO-OPTIC DYSPLASIA SPECTRUM
Alternate names
SEPTO-OPTIC DYSPLASIA SPECTRUM Is also known as sod, septo-optic dysplasia, de morsier syndrome
Description
Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.
Most common symptoms of SEPTO-OPTIC DYSPLASIA SPECTRUM
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Nystagmus
More info about SEPTO-OPTIC DYSPLASIA SPECTRUM
SOURCES: ORPHANET
SYNDROMIC MICROPHTHALMIA TYPE 5
Alternate names
SYNDROMIC MICROPHTHALMIA TYPE 5 Is also known as mcops5, syndromic microphthalmia/anophthalmia due to otx2 mutation
Description
Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.
Most common symptoms of SYNDROMIC MICROPHTHALMIA TYPE 5
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about SYNDROMIC MICROPHTHALMIA TYPE 5
COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS
Alternate names
COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS Is also known as multiple pituitary hormone deficiencies, genetic forms, familial congenital hypopituitarism
Description
Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.
Most common symptoms of COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS
- Intellectual disability
- Seizures
- Short stature
- Generalized hypotonia
- Hearing impairment
More info about COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS
PITUITARY HORMONE DEFICIENCY, COMBINED, 6; CPHD6
Most common symptoms of PITUITARY HORMONE DEFICIENCY, COMBINED, 6; CPHD6
- Short stature
- Ectopic posterior pituitary
More info about PITUITARY HORMONE DEFICIENCY, COMBINED, 6; CPHD6
SOURCES: OMIM
BUTTERFLY-SHAPED PIGMENT DYSTROPHY
Alternate names
BUTTERFLY-SHAPED PIGMENT DYSTROPHY Is also known as butterfly-shaped pigmentary macular dystrophy, butterfly-shaped pattern dystrophy
Description
Butterfly-shaped pigment dystrophy is a patterned dystrophy of the retinal pigment epithelium (see this term) characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.
More info about BUTTERFLY-SHAPED PIGMENT DYSTROPHY
SOURCES: ORPHANET
Search interest in OTX2
Potential gene panels for OTX2 gene
MitoMet®Plus aCGH Analysis Panel
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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![](/img/flags/United-states.png)
Leber Congential Amaurosis Panel (MitomeNGS) Panel
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By Baylor Miraca Genetics Laboratories Leber Congential Amaurosis Panel (MitomeNGS) that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX
More info about this panel![](/img/flags/United-states.png)
OTX2 Familial Mutation/Variant Analysis Panel
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By Baylor Miraca Genetics Laboratories
This panel specifically test the OTX2 gene.
More info about this panel![](/img/flags/United-states.png)
OTX2 Prenatal Sequence Analysis Panel
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By Baylor Miraca Genetics Laboratories
This panel specifically test the OTX2 gene.
More info about this panel![](/img/flags/United-states.png)
OTX2 Sequence Analysis Panel
![](/img/flags/United-states.png)
By Baylor Miraca Genetics Laboratories
This panel specifically test the OTX2 gene.
More info about this panel![](/img/flags/United-states.png)
Leber Congenital Amaurosis Panel Panel
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By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Leber Congenital Amaurosis Panel that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7 CRB1
More info about this panel![](/img/flags/United-states.png)
Macular Degeneration Panel Panel
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By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Macular Degeneration Panel that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RAX2 IMPG2 HMCN1
More info about this panel![](/img/flags/United-states.png)
Microphthalmia, Pituitary Hormone Deficiency, Retinal Dystrophy - OTX2 Sequencing Panel
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By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the OTX2 gene.
More info about this panel![](/img/flags/United-states.png)
Comprehensive Brain Malformation Panel Panel
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By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Brain Malformation Panel that also includes the following genes: SHH STIL SIX3 SLC9A6 SOX2 CDKL5 TGIF1 MED12 CEP41 TUBA8
More info about this panel![](/img/flags/United-states.png)
Anophthalmia/microphthalmia Panel
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By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet Anophthalmia/microphthalmia that also includes the following genes: BMP4 SIX6 SOX2 TFAP2A VAX1 ALX1 PORCN MFRP RAX VSX2
More info about this panel![](/img/flags/Denmark.png.pagespeed.ce.NsMpWwCVLQ.png)
Microphthalmia, syndromic 5 Panel
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By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet
This panel specifically test the OTX2 gene.
More info about this panel![](/img/flags/Denmark.png.pagespeed.ce.NsMpWwCVLQ.png)
OTX2 mutation analysis Panel
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By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the OTX2 gene.
More info about this panel![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
Pituitary hormone deficiency, combined 6 (sequence analysis of OTX2 gene) Panel
![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
By CGC Genetics
This panel specifically test the OTX2 gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Leber congenital amaurosis (NGS panel for 20 genes) Panel
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By CGC Genetics Leber congenital amaurosis (NGS panel for 20 genes) that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Microphthalmia (NGS panel for 26 genes) Panel
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By CGC Genetics Microphthalmia (NGS panel for 26 genes) that also includes the following genes: BMP4 SHH SIX6 SOX2 VAX1 MFRP RAX NAA10 VSX2 SMOC1
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Microphthalmia (sequence analysais of OTX2 gene) Panel
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By CGC Genetics
This panel specifically test the OTX2 gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Congenital hypopituitarism (NGS panel for 7 genes) Panel
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By CGC Genetics Congenital hypopituitarism (NGS panel for 7 genes) that also includes the following genes: SOX3 LHX4 HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Septooptic dysplasia (NGS panel for 17 genes) Panel
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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![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Septooptic dysplasia (NGS panel for 17 genes) Panel
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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![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Congenital hypopituitarism (NGS panel for 7 genes) Panel
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By CGC Genetics Congenital hypopituitarism (NGS panel for 7 genes) that also includes the following genes: SOX3 LHX4 HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Syndromic Microphthalmia via OTX2 Gene Sequencing with CNV Detection Panel
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By PreventionGenetics PreventionGenetics
This panel specifically test the OTX2 gene.
More info about this panel![](/img/flags/United-states.png)
Agnathia-Otocephaly Complex Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Agnathia-Otocephaly Complex Sequencing Panel with CNV Detection that also includes the following genes: OTX2 PRRX1
More info about this panel![](/img/flags/United-states.png)
Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection that also includes the following genes: BMP4 BMP7 SIX6 SOX2 RAX VSX2 SMOC1 BCOR CRYBA4 TENM3
More info about this panel![](/img/flags/United-states.png)
Leber Congenital Amaurosis Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Leber Congenital Amaurosis Sequencing Panel with CNV Detection that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 INPP5E CNGA3
More info about this panel![](/img/flags/United-states.png)
Septo-optic Dysplasia Spectrum Sequencing Panel with CNV Detection Panel
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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![](/img/flags/United-states.png)
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel![](/img/flags/United-states.png)
Combined Pituitary Hormone Deficiency (CPHD) Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Combined Pituitary Hormone Deficiency (CPHD) Sequencing Panel with CNV Detection that also includes the following genes: SOX2 SOX3 LHX4 GLI2 HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panel![](/img/flags/United-states.png)
Focused Inherited Retinal Disorders Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Focused Inherited Retinal Disorders Sequencing Panel with CNV Detection that also includes the following genes: RHO RP1 RPE65 TULP1 USH2A RPGRIP1 CABP4 PRPF8 NMNAT1 CHM
More info about this panel![](/img/flags/United-states.png)
Leber congenital amaurosis and related disorders Comprehensive panel Panel
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By Connective Tissue Gene Tests Leber congenital amaurosis and related disorders Comprehensive panel that also includes the following genes: ROM1 RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7
More info about this panel![](/img/flags/United-states.png)
Leber congenital amaurosis and related disorders Deletion / Duplication panel Panel
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By Connective Tissue Gene Tests Leber congenital amaurosis and related disorders Deletion / Duplication panel that also includes the following genes: ROM1 RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7
More info about this panel![](/img/flags/United-states.png)
Leber congenital amaurosis and related disorders NGS panel Panel
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By Connective Tissue Gene Tests Leber congenital amaurosis and related disorders NGS panel that also includes the following genes: ROM1 RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7
More info about this panel![](/img/flags/United-states.png)
Short stature with endocrinopathy NGS panel Panel
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By Connective Tissue Gene Tests Short stature with endocrinopathy NGS panel that also includes the following genes: SOX3 BTK LHX4 GH1 GHR GHRHR GHSR HESX1 IGF1 IGF1R
More info about this panel![](/img/flags/United-states.png)
Short stature with endocrinopathy Deletion / Duplication panel Panel
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By Connective Tissue Gene Tests Short stature with endocrinopathy Deletion / Duplication panel that also includes the following genes: SOX3 BTK LHX4 GH1 GHR GHRHR GHSR HESX1 IGF1 IGF1R
More info about this panel![](/img/flags/United-states.png)
Short stature with endocrinopathy Comprehensive panel Panel
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By Connective Tissue Gene Tests Short stature with endocrinopathy Comprehensive panel that also includes the following genes: SOX3 BTK LHX4 GH1 GHR GHRHR GHSR HESX1 IGF1 IGF1R
More info about this panel![](/img/flags/United-states.png)
Mental retardation - different panels Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
OTX2 Panel
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By MGZ Medical Genetics Center
This panel specifically test the OTX2 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Eye Diseases - panels Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Microphthalmia-Anophthalmia-Coloboma Complex (MAC) Panel
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By MGZ Medical Genetics Center Microphthalmia-Anophthalmia-Coloboma Complex (MAC) that also includes the following genes: SALL2 BMP4 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A TGIF1 VAX1
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
PAX6-Related Anophthalmia Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Microphthalmia syndromic type 4 Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Centogene AG - the Rare Disease Company
This panel specifically test the OTX2 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Microphthalmia panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Centogene AG - the Rare Disease Company Microphthalmia panel that also includes the following genes: BMP4 SIX6 SOX2 RAX VSX2 BCOR TENM3 STRA6 ALDH1A3 HCCS
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Microphthalmy Panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By CeGaT GmbH Microphthalmy Panel that also includes the following genes: BMP4 SHH SIX6 SOX2 VAX1 MFRP RAX NAA10 VSX2 SMOC1
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Septo-optical dysplasia Panel Panel
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By CeGaT GmbH Septo-optical dysplasia Panel that also includes the following genes: SOX2 SOX3 PROKR2 TAX1BP3 FGFR2 HESX1 OTX2
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Leber Congenital Amaurosis Panel Panel
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By CeGaT GmbH Leber Congenital Amaurosis Panel that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Single gene testing OTX2 Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By CeGaT GmbH
This panel specifically test the OTX2 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis Panel
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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![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
Eye diseases comprehensive panel Panel
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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![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
Combined Pituitary Hormone Deficiency Panel
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By Asper Biogene Asper Biogene LLC Combined Pituitary Hormone Deficiency that also includes the following genes: LHX4 GH1 GHRHR HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panel![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
Developmental Eye Disease panel Panel
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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![](/img/flags/United-states.png)
Retinal Dystrophy Panel Panel
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By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel![](/img/flags/United-states.png)
Leber congenital amaurosis panel Panel
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By Molecular Vision Laboratory Leber congenital amaurosis panel that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX
More info about this panel![](/img/flags/United-states.png)
Septo-optic dysplasia Panel
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By Molecular Vision Laboratory Septo-optic dysplasia that also includes the following genes: SOX2 HESX1 OTX2 PAX6
More info about this panel![](/img/flags/United-states.png)
MVL Vision Panel Panel
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By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel![](/img/flags/United-states.png)
qGenEx Craniofacial Anomalies Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Invitae Microphthalmia/Anophthalmia Disorders Panel Panel
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By Invitae Invitae Microphthalmia/Anophthalmia Disorders Panel that also includes the following genes: BMP4 SHH SOX2 PXDN MFRP RAX VSX2 BCOR STRA6 FOXE3
More info about this panel![](/img/flags/United-states.png)
Invitae Leber Congenital Amaurosis Panel Panel
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By Invitae Invitae Leber Congenital Amaurosis Panel that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
More info about this panel![](/img/flags/United-states.png)
Septooptic dysplasia Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel Panel
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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![](/img/flags/United-states.png)
Eye Disorders: Comprehensive Sequencing Panel Panel
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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![](/img/flags/United-states.png)
Leber Congenital Amaurosis: Sequencing and Deletion/Duplication Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Leber Congenital Amaurosis: Sequencing and Deletion/Duplication Panel that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
More info about this panel![](/img/flags/United-states.png)
Retina/Photoreceptor Dystrophy: Sequencing Panel Panel
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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![](/img/flags/United-states.png)
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel Panel
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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![](/img/flags/United-states.png)
Eye Disorders: Deletion/Duplication Panel Panel
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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![](/img/flags/United-states.png)
Eye Disorders NGS Panel Panel
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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![](/img/flags/United-states.png)
Septo-optic Dysplasia NGS Panel Panel
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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![](/img/flags/United-states.png)
OTX2 Panel
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By Fulgent Genetics Fulgent Genetics
This panel specifically test the OTX2 gene.
More info about this panel![](/img/flags/United-states.png)
Comprehensive Short Stature Syndrome Panel Panel
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By Blueprint Genetics Comprehensive Short Stature Syndrome Panel that also includes the following genes: RIT1 BCS1L RRAS SHOX BRAF SMC1A SOS1 SOX2 SOX3 STAT5B
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Retinal Dystrophy Panel Panel
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By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Neuro-Ophthalmology Panel Panel
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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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Septo-Optic Dysplasia Panel Panel
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By Blueprint Genetics Septo-Optic Dysplasia Panel that also includes the following genes: SOX2 HESX1 OTX2 PAX6
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel Panel
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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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
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By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Isolated Growth Hormone Deficiency NGS and Deletion/Duplication Panel Panel
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By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Isolated Growth Hormone Deficiency NGS and Deletion/Duplication Panel that also includes the following genes: BTK LHX4 GH1 GHRHR GHSR HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panel![](/img/flags/United-states.png)
Combined Pituitary Hormone Deficiency NGS and Deletion/Duplication Panel Panel
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By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Combined Pituitary Hormone Deficiency NGS and Deletion/Duplication Panel that also includes the following genes: LHX4 HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panel![](/img/flags/United-states.png)
OTX2 Gene Sequencing and Deletion/Duplication Analysis Panel
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By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the OTX2 gene.
More info about this panel![](/img/flags/United-states.png)
COMBINED PITUITARY HORMONE DEFICIENCY Panel
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By Laboratorio de Genetica Clinica SL COMBINED PITUITARY HORMONE DEFICIENCY that also includes the following genes: LHX4 HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
ANOPHTHALMIA/ MICROPHTALMIA Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
LEBER CONGENITAL AMAUROSIS NGS PANEL Panel
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By Laboratorio de Genetica Clinica SL LEBER CONGENITAL AMAUROSIS NGS PANEL that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 PMPCA RD3 RDH12 SPATA7 CRB1
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Septo-Optic Dysplasia , Sequencing OTX2 Gene Panel
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By Reference Laboratory Genetics
This panel specifically test the OTX2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Combined Pituitary Hormone Deficiency , Panel Massive Sequencing (NGS) 6 Genes Panel
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By Reference Laboratory Genetics Combined Pituitary Hormone Deficiency , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: LHX4 HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Microphthalmia , Panel Massive Sequencing (NGS) 14 Genes Panel
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By Reference Laboratory Genetics Microphthalmia , Panel Massive Sequencing (NGS) 14 Genes that also includes the following genes: BMP4 SIX6 SOX2 VAX1 RAX VSX2 BCOR STRA6 GDF3 GDF6
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Septo-Optic Dysplasia , Panel Massive Sequencing (NGS) 9 Genes Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
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