Genomics England
GMS Panels
Panels
Genes and Entities

BFSP1

beaded filament structural protein 1
OMIM: 603307
PanelMode of inheritanceDetails
1 panel
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 4.14
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cataract 33, 611391