Bilateral congenital or childhood onset cataracts
Gene: CRYBB1EnsemblGeneIds (GRCh38): ENSG00000100122
EnsemblGeneIds (GRCh37): ENSG00000100122
OMIM: 600929, Gene2Phenotype
CRYBB1 is in 5 panels
4 reviews
Owen Siggs (Flinders University)
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)
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)
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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Caroline Wright (Genomics England Curator)Mode of inheritance for CRYBB1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
GEL ()CRYBB1 was added to Cataractspanel. Sources: UKGTN
Added New Source
GEL ()CRYBB1 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()CRYBB1 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services