Bilateral congenital or childhood onset cataracts
Gene: CRYBB3
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Congenital Nuclear Cataract; Cataract 22, autosomal recessive, 609741
Variants in this GENE are reported as part of current diagnostic practice
Confirmed DD gene for CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2. It is on the Manchester congenital cataracts gene panel. OMIM has associations with CATARACT 22, NUCLEAR, AUTOSOMAL RECESSIVE and CATARACT 22, MULTIPLE TYPES, AUTOSOMAL DOMINANT (source of mode of inheritance).Created: 22 Apr 2016, 5:04 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CRYBB3 were changed from Congenital Nuclear Cataract; Cataract 22, autosomal recessive, 609741 to Cataract 22, OMIM:609741
This gene has been classified as Green List (High Evidence).
Mode of inheritance for CRYBB3 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
CRYBB3 was added to Cataractspanel. Sources: UKGTN
CRYBB3 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen
CRYBB3 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services