LIM2 gene related symptoms and diseases

All the information presented here about the LIM2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to LIM2 gene

Symptoms // Phenotype % Cases
Congenital cataract Very Common - Between 80% and 100% cases
Cataract Very Common - Between 80% and 100% cases
Nystagmus Uncommon - Between 30% and 50% cases
Stridor Uncommon - Between 30% and 50% cases
Sutural cataract Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with LIM2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Lenticonus
  • Anterior polar cataract
  • Cortical cataract
  • Polar cataract
  • Posterior polar cataract
  • Inspiratory stridor
  • Nuclear cataract
  • Severe vision loss

And 14 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to LIM2 gene

Here you will find a list of rare diseases related to the LIM2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


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.

Most common symptoms of CATARACT 19, MULTIPLE TYPES; CTRCT19

  • Nystagmus
  • Cataract
  • Congenital cataract
  • Amblyopia
  • Blurred vision


More info about CATARACT 19, MULTIPLE TYPES; CTRCT19

SOURCES: OMIM

TOTAL EARLY-ONSET CATARACT


Alternate names

TOTAL EARLY-ONSET CATARACT Is also known as cataract, congenital, x-linked, cataract, congenital total, with posterior sutural opacities in heterozygotes, cxn, cct, cataract 40 with or without microcornea

Most common symptoms of TOTAL EARLY-ONSET CATARACT

  • Cataract
  • Visual impairment
  • Ventricular septal defect
  • Microphthalmia
  • Patent ductus arteriosus


More info about TOTAL EARLY-ONSET CATARACT

SOURCES: OMIM ORPHANET


Potential gene panels for LIM2 gene

Cataract 5, multiple types (sequence analysis of HSF4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LIM2 gene.

More info about this panel

Cataracts (NGS panel for 41 genes) Panel

Portugal.

By CGC Genetics Cataracts (NGS panel for 41 genes) that also includes the following genes: BFSP1 BFSP2 VIM WFS1 FYCO1 PXDN CHMP4B P3H2 AGK SLC16A12

More info about this panel

Cataract 19 (CTRCT19) via LIM2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the LIM2 gene.

More info about this panel

Congenital Cataracts Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Cataracts Sequencing Panel with CNV Detection that also includes the following genes: BFSP1 BFSP2 VIM FYCO1 PXDN CHMP4B P3H2 AGK SLC16A12 CRYAA

More info about this panel

Cataract Panel

Germany.

By MGZ Medical Genetics Center Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM WFS1 RAB18 FYCO1 JAM3 TBC1D20 CHMP4B

More info about this panel

Eye Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2

More info about this panel

Cataract panel Panel

Germany.

By Centogene AG - the Rare Disease Company Cataract panel that also includes the following genes: BFSP1 BFSP2 VIM WFS1 UNC45B FYCO1 CHMP4B P3H2 VSX2 BCOR

More info about this panel

Cataract, cortical pulverulent, late-onset Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the LIM2 gene.

More info about this panel

Cataract Panel Panel

Germany.

By CeGaT GmbH Cataract Panel that also includes the following genes: BFSP1 BFSP2 VIM FYCO1 PXDN CHMP4B P3H2 BCOR AGK SLC16A12

More info about this panel

Cataract Panel

Estonia.

By Asper Biogene Asper Biogene LLC Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM UNC45B FYCO1 PXDN CHMP4B P3H2 VSX2

More info about this panel

Eye diseases comprehensive panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

LIM2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LIM2 gene.

More info about this panel

Cataract Panel Panel

Finland.

By Blueprint Genetics Cataract Panel that also includes the following genes: BFSP1 BFSP2 TFAP2A VIM WFS1 WRN FYCO1 PXDN CHMP4B RAB3GAP1

More info about this panel

Congenital Cataract, Autosomal Recessive NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Congenital Cataract, Autosomal Recessive NGS and Deletion/Duplication Panel that also includes the following genes: FYCO1 AGK CRYAA CRYAB CRYBB1 CRYBB3 SIL1 CTDP1 TDRD7 GALK1

More info about this panel

LIM2 Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the LIM2 gene.

More info about this panel

Congenital Cataracts , Panel Massive Sequencing (NGS) 40 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Cataracts , Panel Massive Sequencing (NGS) 40 Genes that also includes the following genes: BFSP1 BFSP2 VIM FYCO1 PXDN CHMP4B P3H2 AGK SLC16A12 CRYAA

More info about this panel


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