Bilateral congenital or childhood onset cataracts
Gene: CRYBB1
The inheritance pattern of loss-of-function variants depends upon the exon in which it lies: for example, Gly57Glyfs*107 and Met1Lys are recessive, while Gly220*, Gln223*, and *253Arg (all in the sixth and final exon) are dominant. Summarised in PMID: 28272538.Created: 16 May 2017, 8:39 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications
Mode of pathogenicity
Other
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital Nuclear Cataract; Cataract 17, multiple types, 611544
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Evidence for monoallelic as well as biallelic inheritance:
http://www.sciencedirect.com/science/article/pii/S0002929707604169
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3683360/Created: 6 Jun 2016, 12:01 p.m.
On the Manchester congenital cataracts gene panel. It is a confirmed DD gene for CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3.
Created: 22 Apr 2016, 5 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Mode of inheritance for CRYBB1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
CRYBB1 was added to Cataractspanel. Sources: UKGTN
CRYBB1 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen
CRYBB1 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services