Cataract
Gene: CRYBA1

CRYBA1 (crystallin beta A1)
EnsemblGeneIds (GRCh38): ENSG00000108255
EnsemblGeneIds (GRCh37): ENSG00000108255
OMIM: 123610, Gene2Phenotype
CRYBA1 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mutations in the CRYBA1 gene have been found to cause multiple types of cataract, which have been described as congenital zonular with sutural opacities, congenital nuclear progressive, and progressive lamellar.

Multiple families reported.
Created: 24 Nov 2021, 7:31 a.m. | Last Modified: 24 Nov 2021, 7:31 a.m.

Panel Version: 0.298

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cataract 10, multiple types, MIM# 600881

Publications

Created: 24 Nov 2021, 7:31 a.m.
Last Modified: 24 Nov 2021, 7:31 a.m.
Panel version: 0.298

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Cataract 10, multiple types, MIM# 600881

OMIM

123610

Clinvar variants

Variants in CRYBA1

Penetrance

None

Publications

Panels with this gene