Bilateral congenital or childhood onset cataracts
Gene: CRYGB
Phenotypes
Cataract 39, multiple types, autosomal dominant, 615188
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: After a literature search and expert review, there is not enough evidence at this time for the gene to be promoted to green.Created: 2 Jun 2016, 1:36 p.m.
Not on the Manchester congenital cataracts gene panel. Is not in G2P associated with a phenotype. Is associated with cataract 39, multiple types in OMIM, with a report from one family.
Created: 25 Apr 2016, 9:08 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
Publications for CRYGB were set to Alfadhli et al (2012) Mol. Vis. 18: 2931-2936; Mouse mutation: Li et al (2008) Invest. Ophthal. Vis. Sci. 49: 304-309; PMID: 21941057 - a SNP associated with susceptibility to cataract.
Publications for CRYGB were set to Alfadhli et al (2012) Mol. Vis. 18: 2931-2936; Mouse mutation: Li et al (2008) Invest. Ophthal. Vis. Sci. 49: 304-309
Mode of inheritance for CRYGB was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
CRYGB was added to Cataractspanel. Sources: UKGTN
CRYGB was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen