Bilateral congenital or childhood onset cataracts
Gene: CRYGB

CRYGB (crystallin gamma B)
EnsemblGeneIds (GRCh38): ENSG00000182187
EnsemblGeneIds (GRCh37): ENSG00000182187
OMIM: 123670, Gene2Phenotype
CRYGB is in 2 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

I don't know

Phenotypes
Cataract 39, multiple types, autosomal dominant, 615188

Publications

Alfadhli et al (2012) Mol. Vis. 18: 2931-2936
Mouse mutation: Li et al (2008) Invest. Ophthal. Vis. Sci. 49: 304-309

Variants in this GENE are reported as part of current diagnostic practice

Created: 2 Jun 2016, 1:20 p.m.

Panel version: 0.281

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

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

Created: 25 Apr 2016, 9:08 a.m.

Panel version: 0.0

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

Expert Review Red
UKGTN
Radboud University Medical Center, Nijmegen

Phenotypes

Cataract 39, multiple types, autosomal dominant, 615188

OMIM

123670

Clinvar variants

Variants in CRYGB

Penetrance

Complete

Publications

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.

Panels with this gene