Bilateral congenital or childhood onset cataracts
Gene: CRYGC
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cataract 2, multiple types, 604307
Variants in this GENE are reported as part of current diagnostic practice
Is on the Manchester congenital cataracts gene panel. It is a confirmed DD gene for cataract autosomal dominant, and a possible DD gene for cataract coppock-like. Associated with Cataract 2, multiple types in OMIM, and multiple variants reported.Created: 25 Apr 2016, 9:11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
cataract autosomal dominant; cataract coppock-like; Cataract 2, multiple types
Phenotypes for CRYGC were set to Cataract 2, multiple types, 604307; cataract autosomal dominant; cataract coppock-like; Cataract 2, multiple types
Mode of inheritance for CRYGC was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
CRYGC was added to Cataractspanel. Sources: UKGTN
CRYGC was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen