Microphthalmia, Isolated 3; Mcop3
Clinical Features
Phenotypes and symptoms related to Microphthalmia, Isolated 3; Mcop3
- Microphthalmia
- Retinal detachment
- Anophthalmia
- Sclerocornea
- Ankyloblepharon
- Remnants of the hyaloid vascular system
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
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 3; Mcop3 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
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 % |
Microphthalmia isolated 3 (sequence analysis of RAX gene).
By CGC Genetics (Portugal).
RAX
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 % |
Microphthalmia and Anophthalmia via RAX Gene Sequencing with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
RAX
Specificity
100 %
Genes
100 % |
Eye Diseases - panels.
By MGZ Medical Genetics Center (Germany).
BFSP1, BFSP2, SALL2, BMP4, BMP7, SHH, SIX3, SIX6, FOXL2, SOX2, TACSTD2, ZEB1, TFAP2A, TGFBI, TGIF1, TREX1, TYR, TYRP1, VAX1, VIM , (...)
View the complete list with 146 more genes
Specificity
1 %
Genes
100 % |
Microphthalmia-Anophthalmia-Coloboma Complex (MAC).
By MGZ Medical Genetics Center (Germany).
SALL2, BMP4, SHH, SIX3, SIX6, FOXL2, SOX2, TFAP2A, TGIF1, VAX1, ZIC2, RAB18, TBC1D20, RAB3GAP1, RAB3GAP2, MFRP, RAX, GRIP1, FRAS1, VSX2 , (...)
View the complete list with 28 more genes
Specificity
3 %
Genes
100 % |
You can get up to 12 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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