Microphthalmia, Isolated, With Coloboma 7; Mcopcb7
Genes related to Microphthalmia, Isolated, With Coloboma 7; Mcopcb7
- ABCB6
Clinical Features
Phenotypes and symptoms related to Microphthalmia, Isolated, With Coloboma 7; Mcopcb7
- Microphthalmia
- Coloboma
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, With Coloboma 7; Mcopcb7 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 % |
ABCB6 Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
ABCB6
Specificity
100 %
Genes
100 % |
ABCB6 Deletion/duplication analysis.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
ABCB6
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 % |
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 % |
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 14 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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