Genomics England
GMS Panels
Panels
Genes and Entities

CRYBB2

crystallin beta B2
OMIM: 123620
PanelMode of inheritanceDetails
4 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
Cataract 3, multiple types, 601547, cataract, coppock-like and cataract, congenital cerulean type 2, Cataract 3, multiple types
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, CONGENITAL, CERULEAN TYPE, 2 601547, CATARACT, COPPOCK-LIKE 604307
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CATARACT, COPPOCK-LIKE, CATARACT, CONGENITAL, CERULEAN TYPE, 2
Green
in Structural eye disease
R-numbers: R36
Signed-off version 3.79
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cataract 3, multiple types, OMIM:601547