Microphthalmia, Isolated, With Coloboma 3; Mcopcb3
Genes related to Microphthalmia, Isolated, With Coloboma 3; Mcopcb3
- VSX2
Clinical Features
Phenotypes and symptoms related to Microphthalmia, Isolated, With Coloboma 3; Mcopcb3
- Cataract
- Cryptorchidism
- Microphthalmia
- Coloboma
- Congenital cataract
- Retinal detachment
- Microcornea
- Lens luxation
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— The onset for some of the known clinical features related to this disease may vary, including congenital onset .
Alternative names
Microphthalmia, Isolated, With Coloboma 3; Mcopcb3 Is also known as microphthalmia, colobomatous, isolated 3.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Microphthalmia, Isolated, With Coloboma 3; Mcopcb3 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Anophthalmia/microphthalmia.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).
BMP4, SIX6, SOX2, TFAP2A, VAX1, ALX1, PORCN, MFRP, RAX, VSX2, BCOR, COL4A1, FREM1, CRYBA4, TENM3, STRA6, FOXE3, PRSS56, ALDH1A3, GDF3 , (...)
View the complete list with 9 more genes
Specificity
4 %
Genes
100 % |
CHX10. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
VSX2
Specificity
100 %
Genes
100 % |
VSX2. Complete Sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
VSX2
Specificity
100 %
Genes
100 % |
Microphthalmia isolated 2 (sequence analysis of VSX2 gene).
By CGC Genetics (Portugal).
VSX2
Specificity
100 %
Genes
100 % |
Microphthalmia (NGS panel for 26 genes).
By CGC Genetics (Portugal).
BMP4, SHH, SIX6, SOX2, VAX1, MFRP, RAX, NAA10, VSX2, SMOC1, CHD7, BCOR, FREM1, TENM3, STRA6, PRSS56, ALDH1A3, GDF3, GDF6, ABCB6 , (...)
View the complete list with 6 more genes
Specificity
4 %
Genes
100 % |
Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
BMP4, BMP7, SIX6, SOX2, RAX, VSX2, SMOC1, BCOR, CRYBA4, TENM3, STRA6, FOXE3, ALDH1A3, GDF6, HCCS, MITF, OTX2
Specificity
6 %
Genes
100 % |
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)
View the complete list with 286 more genes
Specificity
1 %
Genes
100 % |
Cataract.
By MGZ Medical Genetics Center (Germany).
BFSP1, BFSP2, SIX6, VIM, WFS1, RAB18, FYCO1, JAM3, TBC1D20, CHMP4B, RAB3GAP1, RAB3GAP2, P3H2, VSX2, COL11A1, COL18A1, COL4A1, COL4A2, SLC16A12, CRYAA , (...)
View the complete list with 44 more genes
Specificity
2 %
Genes
100 % |
You can get up to 34 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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