Cataract
Gene: CRYBB1

CRYBB1 (crystallin beta B1)
EnsemblGeneIds (GRCh38): ENSG00000100122
EnsemblGeneIds (GRCh37): ENSG00000100122
OMIM: 600929, Gene2Phenotype
CRYBB1 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mutations in the CRYBB1 gene have been found to cause multiple types of cataract, which have been described as congenital nuclear, congenital nuclear with anterior and posterior Y-suture and polar opacities, and pulverulent. Both mono-allelic and bi-allelic inheritance reported.
Created: 25 Nov 2021, 6:33 a.m. | Last Modified: 25 Nov 2021, 6:33 a.m.

Panel Version: 0.304

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cataract 17, multiple types, MIM# 611544

Publications

Created: 25 Nov 2021, 6:33 a.m.
Last Modified: 25 Nov 2021, 6:33 a.m.
Panel version: 0.304

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Cataract 17, multiple types, MIM# 611544

OMIM

600929

Clinvar variants

Variants in CRYBB1

Penetrance

None

Publications

Panels with this gene