Cataracts

Gene: CRYGB

Red List (low evidence)

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

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

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

History Filter Activity

2 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

2 Jun 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

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.

2 Jun 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

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

2 Jun 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CRYGB was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

13 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

CRYGB was added to Cataractspanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CRYGB was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen