Cataracts

Gene: CRYBB2

Green List (high evidence)

CRYBB2 (crystallin beta B2)
EnsemblGeneIds (GRCh38): ENSG00000244752
EnsemblGeneIds (GRCh37): ENSG00000244752
OMIM: 123620, Gene2Phenotype
CRYBB2 is in 5 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cataract 3, multiple types, 601547

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

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Is on the Manchester congenital cataracts gene panel and is a confirmed DD gene for cataract, coppock-like and cataract, congenital cerulean type 2.
Created: 25 Apr 2016, 9:05 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
cataract, coppock-like and cataract; congenital cerulean type 2; Cataract 3, multiple types

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cataract 3, multiple types, 601547
  • cataract, coppock-like and cataract
  • congenital cerulean type 2
  • Cataract 3, multiple types
OMIM
123620
Clinvar variants
Variants in CRYBB2
Penetrance
Complete
Panels with this gene

History Filter Activity

14 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CRYBB2 were set to Cataract 3, multiple types, 601547; cataract, coppock-like and cataract; congenital cerulean type 2; Cataract 3, multiple types

31 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CRYBB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

CRYBB2 was added to Cataractspanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CRYBB2 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen