Cataract
Gene: CRYBB2

CRYBB2 (crystallin beta B2)
EnsemblGeneIds (GRCh38): ENSG00000244752
EnsemblGeneIds (GRCh37): ENSG00000244752
OMIM: 123620, Gene2Phenotype
CRYBB2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mutations in the CRYBB2 gene have been found to cause several types of cataract, which have been described as congenital cerulean, 'blue dot,' Coppock-like, sutural with punctate and cerulean opacities, pulverulent embryonal, pulverulent with cortical opacities, dense posterior star-shaped subcapsular with pulverulent opacities in the cortical and embryonal regions, and dense embryonal. Multiple families reported.
Created: 25 Nov 2021, 6:46 a.m. | Last Modified: 25 Nov 2021, 6:46 a.m.

Panel Version: 0.307

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cataract 3, multiple types, MIM# 601547

Publications

Created: 25 Nov 2021, 6:46 a.m.
Last Modified: 25 Nov 2021, 6:46 a.m.
Panel version: 0.307

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Cataract 3, multiple types, MIM# 601547

OMIM

123620

Clinvar variants

Variants in CRYBB2

Penetrance

None

Publications

Panels with this gene