Bilateral congenital or childhood onset cataracts
Gene: CRYBB3EnsemblGeneIds (GRCh38): ENSG00000100053
EnsemblGeneIds (GRCh37): ENSG00000100053
OMIM: 123630, Gene2Phenotype
CRYBB3 is in 5 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
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)
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
-
- Cataract 22, OMIM:609741
- OMIM
- 123630
- Clinvar variants
- Variants in CRYBB3
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CRYBB3 were changed from Congenital Nuclear Cataract; Cataract 22, autosomal recessive, 609741 to Cataract 22, OMIM:609741
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
Ellen McDonagh (Genomics England Curator)Mode of inheritance for CRYBB3 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
GEL ()CRYBB3 was added to Cataractspanel. Sources: UKGTN
Added New Source
GEL ()CRYBB3 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()CRYBB3 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services