Genomics England
GMS Panels
Panels
Genes and Entities

CRYBB1

crystallin beta B1
OMIM: 600929
PanelMode of inheritanceDetails
4 panels
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 6.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Congenital Nuclear Cataract, Cataract 17, multiple types, 611544
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
CATARACT 17, MULTIPLE TYPES, MONOALLELIC, CATARACT 17, MULTIPLE TYPES, CATARACT 17, MULTIPLE TYPES, BIALLELIC
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
CATARACT 17, MULTIPLE TYPES, CATARACT 17, MULTIPLE TYPES, MONOALLELIC, CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cataract 17, multiple types, 611544