Cataract

Gene: CRYAA

Green List (high evidence)

Mutations in the CRYAA gene have been found to cause multiple types of cataract, which have been described as nuclear, zonular central nuclear, laminar, lamellar, anterior polar, posterior polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the CRYAA gene. Both autosomal dominant and autosomal recessive modes of inheritance have been reported.

Multiple families reported.

Created: 24 Nov 2021, 7:21 a.m. | Last Modified: 24 Nov 2021, 7:21 a.m.

Panel Version: 0.295

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cataract 9, multiple types, MIM# 604219

Publications

• 9467006
• 11006246
• 16735993
• 17724170
• 23255486