Bilateral congenital or childhood onset cataracts
Gene: CRYGD
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cataracts; Cataract 4, multiple types, 115700
Variants in this GENE are reported as part of current diagnostic practice
On the Manchester congenital cataracts gene panel. It is a confirmed DD gene for CATARACT CONGENITAL CERULEAN TYPE 3 and CATARACT AUTOSOMAL DOMINANT. It is a possible DD gene for CATARACT CRYSTALLINE ACULEIFORM and CATARACT CONGENITAL NON-NUCLEAR POLYMORPHIC AUTOSOMAL DOMINANT. Associated with Cataract 4, multiple types in OMIM (monogenic).
Created: 22 Apr 2016, 5:07 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CATARACT CONGENITAL CERULEAN TYPE 3; CATARACT AUTOSOMAL DOMINANT
This gene has been classified as Green List (High Evidence).
Phenotypes for CRYGD were set to Cataracts; Cataract 4, multiple types, 115700; CATARACT CONGENITAL CERULEAN TYPE 3; CATARACT AUTOSOMAL DOMINANT
CRYGD was added to Cataractspanel. Sources: UKGTN
CRYGD was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen
CRYGD was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services