Cataracts

Gene: CRYBB3

Green List (high evidence)

CRYBB3 (crystallin beta B3)
EnsemblGeneIds (GRCh38): ENSG00000100053
EnsemblGeneIds (GRCh37): ENSG00000100053
OMIM: 123630, Gene2Phenotype
CRYBB3 is in 5 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Congenital Nuclear Cataract; Cataract 22, autosomal recessive, 609741

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

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Confirmed DD gene for CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2. It is on the Manchester congenital cataracts gene panel. OMIM has associations with CATARACT 22, NUCLEAR, AUTOSOMAL RECESSIVE and CATARACT 22, MULTIPLE TYPES, AUTOSOMAL DOMINANT (source of mode of inheritance).
Created: 22 Apr 2016, 5:04 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Congenital Nuclear Cataract
  • Cataract 22, autosomal recessive, 609741
OMIM
123630
Clinvar variants
Variants in CRYBB3
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).

31 May 2016, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CRYBB3 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

CRYBB3 was added to Cataractspanel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

CRYBB3 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CRYBB3 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services