Cataract 33, Multiple Types; Ctrct33
Description
Mutations in the BFSP1 gene have been found to cause multiple types of cataract, which have been described as cortical, nuclear, and progressive punctate lamellar. Both autosomal dominant and autosomal recessive modes of inheritance have been reported.
Clinical Features
Phenotypes and symptoms related to Cataract 33, Multiple Types; Ctrct33
- Cataract
- Nuclear cataract
- Cortical cataract
- Lamellar cataract
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.
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 33, Multiple Types; Ctrct33 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
3 %
Genes
100 % |
Congenital Cataracts via BFSP1 Gene Sequencing with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
BFSP1
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 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
3 %
Genes
100 % |
Cataract.
By Asper Biogene Asper Biogene LLC (Estonia).
BFSP1, BFSP2, SIX6, VIM, UNC45B, FYCO1, PXDN, CHMP4B, P3H2, VSX2, BCOR, AGK, SLC16A12, SIPA1L3, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2 , (...)
View the complete list with 24 more genes
Specificity
3 %
Genes
100 % |
You can get up to 4 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
MESH OMIM Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PARKINSON DISEASE, LATE-ONSET; PD IMMUNODEFICIENCY 12; IMD12 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5; HHF5 ATAXIA-PANCYTOPENIA SYNDROME; ATXPC ENHANCED S-CONE SYNDROME; ESCS ACROGERIA, GOTTRON TYPE AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2