Cataract
Gene: CRYGC

CRYGC (crystallin gamma C)
EnsemblGeneIds (GRCh38): ENSG00000163254
EnsemblGeneIds (GRCh37): ENSG00000163254
OMIM: 123680, Gene2Phenotype
CRYGC is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mutations in the CRYGC gene have been found to cause several types of cataract, which have been described as Coppock-like; embryonic, fetal, infantile nuclear; zonular pulverulent; and lamellar. Some patients also exhibit microcornea. Multiple families reported.
Created: 25 Nov 2021, 7:08 a.m. | Last Modified: 25 Nov 2021, 7:08 a.m.

Panel Version: 0.313

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cataract 2, multiple types, MIM# 604307

Publications

Created: 25 Nov 2021, 7:08 a.m.
Last Modified: 25 Nov 2021, 7:08 a.m.
Panel version: 0.313

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Cataract 2, multiple types, MIM# 604307

OMIM

123680

Clinvar variants

Variants in CRYGC

Penetrance

None

Publications

Panels with this gene