Cataract
Gene: CRYBB3

CRYBB3 (crystallin beta B3)
EnsemblGeneIds (GRCh38): ENSG00000100053
EnsemblGeneIds (GRCh37): ENSG00000100053
OMIM: 123630, Gene2Phenotype
CRYBB3 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mutations in the CRYBB3 gene have been identified in families with cataract, described as congenital nuclear cataract with cortical riders, nuclear, posterior polar, anterior polar, and cortical. Multiple families reported.
Created: 25 Nov 2021, 7 a.m. | Last Modified: 25 Nov 2021, 7 a.m.

Panel Version: 0.310

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cataract 22, MIM# 609741

Publications

Created: 25 Nov 2021, 7 a.m.
Last Modified: 25 Nov 2021, 7 a.m.
Panel version: 0.310

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Cataract 22, MIM# 609741

OMIM

123630

Clinvar variants

Variants in CRYBB3

Penetrance

None

Publications

Panels with this gene