Cataract 19, Multiple Types; Ctrct19

Description

Mutation in the LIM2 gene has been identified in 1 family with cataracts described as late-onset cortical pulverulent and in another family with congenital cataracts described as total.

Clinical Features

Phenotypes and symptoms related to Cataract 19, Multiple Types; Ctrct19

  • Nystagmus
  • Cataract
  • Congenital cataract
  • Amblyopia
  • Blurred vision
  • Presenile cataracts
  • Cortical pulverulent cataract

Incidence and onset information

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.


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Cataract 19, Multiple Types; Ctrct19 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Cataract 5, multiple types (sequence analysis of HSF4 gene).

By CGC Genetics (Portugal).

LIM2
Specificity
100 %
Genes
100 %
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
3 %
Genes
100 %
Cataract 19 (CTRCT19) via LIM2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

LIM2
Specificity
100 %
Genes
100 %
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
3 %
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 %
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
3 %
Genes
100 %
Cataract, cortical pulverulent, late-onset.

By Centogene AG - the Rare Disease Company (Germany).

LIM2
Specificity
100 %
Genes
100 %

We have 8 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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