VSX2 gene related symptoms and diseases
All the information presented here about the VSX2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to VSX2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Microphthalmia | Very Common - Between 80% and 100% cases |
| Coloboma | Common - Between 50% and 80% cases |
| Anophthalmia | Uncommon - Between 30% and 50% cases |
| Microcornea | Uncommon - Between 30% and 50% cases |
| Congenital cataract | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with VSX2 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Tracheoesophageal fistula
- Hydronephrosis
- Increased intraocular pressure
- Lens luxation
- Retinal detachment
- Cataract
- Cryptorchidism
- Glaucoma
And 7 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to VSX2 gene
Here you will find a list of rare diseases related to the VSX2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
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
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3
Alternate names
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3 Is also known as microphthalmia, colobomatous, isolated 3
Most common symptoms of MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3
- Cataract
- Cryptorchidism
- Microphthalmia
- Coloboma
- Congenital cataract
More info about MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3
SOURCES: OMIM
COLOBOMATOUS MICROPHTHALMIA
Alternate names
COLOBOMATOUS MICROPHTHALMIA Is also known as mac, microphthalmia, colobomatous, isolated 1, microphthalmia-anophthalmia-coloboma syndrome, microphthalmia with colobomatous cyst
Description
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.
Most common symptoms of COLOBOMATOUS MICROPHTHALMIA
- Microphthalmia
- Coloboma
- Microcornea
- Anophthalmia
- Increased intraocular pressure
More info about COLOBOMATOUS MICROPHTHALMIA
MICROPHTHALMIA, ISOLATED 2; MCOP2
Alternate names
MICROPHTHALMIA, ISOLATED 2; MCOP2 Is also known as anophthalmia, clinical, isolated
Most common symptoms of MICROPHTHALMIA, ISOLATED 2; MCOP2
- Microphthalmia
- Hydronephrosis
- Tracheoesophageal fistula
- Esophageal atresia
More info about MICROPHTHALMIA, ISOLATED 2; MCOP2
SOURCES: OMIM
Search interest in VSX2
Potential gene panels for VSX2 gene
Anophthalmia/microphthalmia Panel
Denmark.
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 Denmark.
CHX10. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the VSX2 gene.
More info about this panel Spain.
VSX2. Complete Sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the VSX2 gene.
More info about this panel Spain.
Microphthalmia isolated 2 (sequence analysis of VSX2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the VSX2 gene.
More info about this panel Portugal.
Microphthalmia (NGS panel for 26 genes) Panel
Portugal.
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 Portugal.
Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection Panel
United States.
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 United States.
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
United States.
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 United States.
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 Germany.
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 Germany.
Microphthalmia-Anophthalmia-Coloboma Complex (MAC) Panel
Germany.
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 Germany.
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 Germany.
Microphthalmia, isolated type 2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the VSX2 gene.
More info about this panel Germany.
Microphthalmia, isolated with coloboma type 3 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the VSX2 gene.
More info about this panel Germany.
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 Germany.
Microphthalmia panel Panel
Germany.
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 Germany.
Microphthalmy Panel Panel
Germany.
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 Germany.
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 Estonia.
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 Estonia.
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 Estonia.
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 United States.
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 United States.
Invitae Microphthalmia/Anophthalmia Disorders Panel Panel
United States.
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 United States.
Microphthalmia, Isolated 2: VSX2 (CHX10) gene deletion Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the VSX2 gene.
More info about this panel Spain.
Microphthalmia, isolated 2: VSX2 (CHX10) gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the VSX2 gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
VSX2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the VSX2 gene.
More info about this panel United States.
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 Finland.
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 Finland.
Ectopia Lentis Panel Panel
Finland.
By Blueprint Genetics Ectopia Lentis Panel that also includes the following genes: SUOX ADAMTS10 CBS ADAMTS17 AASS PORCN P3H2 ADAMTSL4 VSX2 BCOR
More info about this panel Finland.
Colobomatous microphthalmia type 2 Panel
Spain.
By Bioarray
This panel specifically test the VSX2 gene.
More info about this panel Spain.
Colobomatous microphthalmia type 3 Panel
Spain.
By Bioarray
This panel specifically test the VSX2 gene.
More info about this panel Spain.
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 Spain.
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 Spain.
Isolated Microphthalmia , Sequencing VSX2 (CHX10) Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the VSX2 gene.
More info about this panel Spain.
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 Spain.
Microphthalmia , Panel Massive Sequencing (NGS) 14 Genes Panel
Spain.
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 Spain.
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