BFSP2 gene related symptoms and diseases
All the information presented here about the BFSP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to BFSP2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Cataract | Very Common - Between 80% and 100% cases |
| Congenital cataract | Very Common - Between 80% and 100% cases |
| Amblyopia | Common - Between 50% and 80% cases |
| Blindness | Uncommon - Between 30% and 50% cases |
| Lamellar cataract | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with BFSP2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Iris atrophy
- Nuclear cataract
- Microcornea
- Photophobia
- Progressive cataract
- Nystagmus
- Myopia
- Sutural cataract
And 4 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to BFSP2 gene
Here you will find a list of rare diseases related to the BFSP2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CATARACT 12, MULTIPLE TYPES; CTRCT12
Description
Mutations in the BFSP2 gene have been found to cause multiple types of cataract, which have been described as juvenile-onset lamellar, cortical, nuclear embryonic; and congenital nuclear, sutural, stellate, Y-sutural, and punctate cortical.
Most common symptoms of CATARACT 12, MULTIPLE TYPES; CTRCT12
- Cataract
- Myopia
- Reduced visual acuity
- Congenital cataract
- High myopia
More info about CATARACT 12, MULTIPLE TYPES; CTRCT12
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
CATARACT 2, MULTIPLE TYPES; CTRCT2
Alternate names
CATARACT 2, MULTIPLE TYPES; CTRCT2 Is also known as cataract 2, multiple types, with or without microcornea, ccl, cataract, coppock-like
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.
Most common symptoms of CATARACT 2, MULTIPLE TYPES; CTRCT2
- Nystagmus
- Cataract
- Blindness
- Photophobia
- Congenital cataract
More info about CATARACT 2, MULTIPLE TYPES; CTRCT2
Search interest in BFSP2
Potential gene panels for BFSP2 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.
Cataract type 12 (sequence analysis of BFSP2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the BFSP2 gene.
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 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.
Single gene testing BFSP2 Panel
Germany.
By CeGaT GmbH
This panel specifically test the BFSP2 gene.
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.
Cataract, autosomal dominant, multiple types 1 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the BFSP2 gene.
More info about this panel Austria.
Cataract, autosomal dominant, multiple types 1 Panel
Slovakia.
By MedGene
This panel specifically test the BFSP2 gene.
More info about this panel Slovakia.
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.
BFSP2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the BFSP2 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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