Cataract 2, Multiple Types; Ctrct2
Description
Mutations in the CRYGC gene have been found to cause several types of cataract, which have been described as Coppock-like; embryonic, fetal, infantile nuclear; zonular pulverulent; and lamellar. Some patients also exhibit microcornea.Before it was known that mutations in the CRYGC gene cause several types of cataract, this entry was titled 'Cataract, Coppock-like,' with the symbol CCL.
Genes related to Cataract 2, Multiple Types; Ctrct2
- BFSP2
- VIM
- CRYGC
- CRYBB1
- GJA8
- CRYBB2
- MAF
- GJA3
- CRYGD
Clinical Features
Top most frequent phenotypes and symptoms related to Cataract 2, Multiple Types; Ctrct2
- Nystagmus
- Cataract
- Blindness
- Photophobia
- Congenital cataract
- Microcornea
- Amblyopia
- Nuclear cataract
- Iris atrophy
- Lamellar cataract
And another 1 symptoms. If you need more information about this disease we can help you.
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.
Alternative names
Cataract 2, Multiple Types; Ctrct2 Is also known as cataract 2, multiple types, with or without microcornea, ccl, cataract, coppock-like.
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.Cataract 2, Multiple Types; Ctrct2 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Cataracts (NGS panel for 41 genes).
By CGC Genetics (Portugal).
BFSP1, BFSP2, VIM, WFS1, FYCO1, PXDN, CHMP4B, P3H2, AGK, SLC16A12, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC , (...)
View the complete list with 21 more genes
Specificity
22 %
Genes
100 % |
Cataract type 12 (sequence analysis of BFSP2 gene).
By CGC Genetics (Portugal).
BFSP2
Specificity
100 %
Genes
12 % |
Congenital Cataracts Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
BFSP1, BFSP2, VIM, FYCO1, PXDN, CHMP4B, P3H2, AGK, SLC16A12, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS , (...)
View the complete list with 20 more genes
Specificity
23 %
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
15 %
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
6 %
Genes
100 % |
Cataract panel.
By Centogene AG - the Rare Disease Company (Germany).
BFSP1, BFSP2, VIM, WFS1, UNC45B, FYCO1, CHMP4B, P3H2, VSX2, BCOR, LEMD2, AGK, SLC16A12, SIPA1L3, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1 , (...)
View the complete list with 25 more genes
Specificity
20 %
Genes
100 % |
Cataract Panel.
By CeGaT GmbH (Germany).
BFSP1, BFSP2, VIM, FYCO1, PXDN, CHMP4B, P3H2, BCOR, AGK, SLC16A12, SIPA1L3, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGA, CRYGB , (...)
View the complete list with 21 more genes
Specificity
22 %
Genes
100 % |
Single gene testing BFSP2.
By CeGaT GmbH (Germany).
BFSP2
Specificity
100 %
Genes
12 % |
You can get up to 41 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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