cataract 12 multiple types
Findings
No curated finding names cataract 12 multiple types yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22.
Definition from the Mondo Disease Ontology (MONDO:0012701), read 2026-09-29. CC BY 4.0.
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Developmental cataractHPOHP:0000519
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- BFSP2HGNC:1041
- Definitive · G2P · Autosomal dominant · 2015
- Definitive · G2P · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of
Other names
1 name
Resolves to: cataract 12 multiple types
- Also called
- CTRCT12