Cataract
Gene: BFSP2

BFSP2 (beaded filament structural protein 2)
EnsemblGeneIds (GRCh38): ENSG00000170819
EnsemblGeneIds (GRCh37): ENSG00000170819
OMIM: 603212, Gene2Phenotype
BFSP2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Can cause congenital or juvenile onset cataracts. At least one report of bi-allelic variants, though >5 dominant families reported.
Created: 9 Nov 2021, 2:49 a.m. | Last Modified: 9 Nov 2021, 2:49 a.m.

Panel Version: 0.292

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cataract 12, multiple types, MIM# 611597

Publications

Created: 9 Nov 2021, 2:49 a.m.
Last Modified: 9 Nov 2021, 2:49 a.m.
Panel version: 0.292

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Cataract 12, multiple types, MIM# 611597

OMIM

603212

Clinvar variants

Variants in BFSP2

Penetrance

None

Publications

Panels with this gene