Genomics England
GMS Panels
Panels
Genes and Entities

BFSP2

beaded filament structural protein 2
OMIM: 603212
PanelMode of inheritanceDetails
3 panels
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 4.14
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cataracts, Cataract 12, multiple types, 611597
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED 611597
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED