CRYBA1 gene related symptoms and diseases

All the information presented here about the CRYBA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CRYBA1 gene

Symptoms // Phenotype % Cases
Cataract Very Common - Between 80% and 100% cases
Congenital cataract Very Common - Between 80% and 100% cases
Nuclear cataract Uncommon - Between 30% and 50% cases
Posterior Y-sutural cataract Uncommon - Between 30% and 50% cases

Rare diseases associated to CRYBA1 gene

Here you will find a list of rare diseases related to the CRYBA1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CATARACT 25; CTRCT25

Alternate names

CATARACT 25; CTRCT25 Is also known as ccsso, cataract, central pouch-like, with sutural opacities, cataract, central saccular, with sutural opacities

Most common symptoms of CATARACT 25; CTRCT25

  • Cataract
  • Congenital cataract


More info about CATARACT 25; CTRCT25

SOURCES: ORPHANET OMIM MESH

CATARACT 10, MULTIPLE TYPES; CTRCT10

Alternate names

CATARACT 10, MULTIPLE TYPES; CTRCT10 Is also known as cataract, congenital zonular, with sutural opacities, cczs

Description

Mutations in the CRYBA1 gene have been found to cause multiple types of cataract, which have been described as congenital zonular with sutural opacities, congenital nuclear progressive, and progressive lamellar.The preferred title/symbol of this entry was formerly 'Cataract, Congenital Zonular, with Sutural Opacities; CCZS.'

Most common symptoms of CATARACT 10, MULTIPLE TYPES; CTRCT10

  • Cataract
  • Congenital cataract
  • Nuclear cataract
  • Posterior Y-sutural cataract


More info about CATARACT 10, MULTIPLE TYPES; CTRCT10

SOURCES: MESH OMIM


Potential gene panels for CRYBA1 gene

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
Portugal.

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
United States.

Cataract 10, Multiple Types (CTRCT10) via CRYBA1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CRYBA1 gene.

More info about this panel
United States.

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
Germany.

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
Germany.

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
Germany.

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
Germany.

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
Estonia.

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
Estonia.

Invitae Congenital Cataracts Panel Panel

United States.

By Invitae Invitae Congenital Cataracts Panel that also includes the following genes: BFSP1 BFSP2 FYCO1 VSX2 BCOR AGK CRYAA CRYAB CRYBA1 CRYBB1

More info about this panel
United States.

CRYBA1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CRYBA1 gene.

More info about this panel
United States.

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
Finland.

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
Spain.

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