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Cataracts

Gene: CRYBB1

Green List (high evidence)

CRYBB1 (crystallin beta B1)
EnsemblGeneIds (GRCh38): ENSG00000100122
EnsemblGeneIds (GRCh37): ENSG00000100122
OMIM: 600929, Gene2Phenotype
CRYBB1 is in 6 panels

4 reviews

Owen Siggs (Flinders University)

Green List (high evidence)

The inheritance pattern of loss-of-function variants depends upon the exon in which it lies: for example, Gly57Glyfs*107 and Met1Lys are recessive, while Gly220*, Gln223*, and *253Arg (all in the sixth and final exon) are dominant. Summarised in PMID: 28272538.
Created: 16 May 2017, 8:39 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

Mode of pathogenicity
Other

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital Nuclear Cataract; Cataract 17, multiple types, 611544

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

Caroline Wright (Genomics England Curator)

Comment on mode of inheritance: Evidence for monoallelic as well as biallelic inheritance:
http://www.sciencedirect.com/science/article/pii/S0002929707604169
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3683360/
Created: 6 Jun 2016, 12:01 p.m.

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

On the Manchester congenital cataracts gene panel. It is a confirmed DD gene for CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3.
Created: 22 Apr 2016, 5 p.m.

Mode of inheritance
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 17, multiple types, 611544
OMIM
600929
Clinvar variants
Variants in CRYBB1
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).

6 Jun 2016, Gel status: 3

Set Mode of Inheritance

Caroline Wright (Genomics England Curator)

Mode of inheritance for CRYBB1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

CRYBB1 was added to Cataractspanel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

CRYBB1 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CRYBB1 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services