Cataract
Gene: CRYGD

CRYGD (crystallin gamma D)
EnsemblGeneIds (GRCh38): ENSG00000118231
EnsemblGeneIds (GRCh37): ENSG00000118231
OMIM: 123690, Gene2Phenotype
CRYGD is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mutations in the CRYGD gene have been found to cause multiple types of cataract, which have been described as aculeiform, crystalline aculeiform, crystalline, crystal, frosted, needle-shaped, fasciculiform, congenital cerulean, nonnuclear polymorphic congenital, central nuclear, lamellar, and punctate. Some patients also exhibit microcornea. Multiple families reported.
Created: 25 Nov 2021, 8:56 a.m. | Last Modified: 25 Nov 2021, 8:56 a.m.

Panel Version: 0.316

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cataract 4, multiple types, MIM# 115700

Publications

Created: 25 Nov 2021, 8:56 a.m.
Last Modified: 25 Nov 2021, 8:56 a.m.
Panel version: 0.316

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Cataract 4, multiple types, MIM# 115700

OMIM

123690

Clinvar variants

Variants in CRYGD

Penetrance

None

Publications

Panels with this gene