Bilateral congenital or childhood onset cataracts
Gene: CRYBA4EnsemblGeneIds (GRCh38): ENSG00000196431
EnsemblGeneIds (GRCh37): ENSG00000196431
OMIM: 123631, Gene2Phenotype
CRYBA4 is in 5 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cataract 23, 610425
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Is on the Manchester congenital cataracts gene panel. It is a confirmed DD gene for cataract zonular type 2, and a possible DD gene for microphthalmia isolated with cataract type 4. Associated with cataract 23 in OMIM.Created: 25 Apr 2016, 9:03 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Cataract 23, 610425
- OMIM
- 123631
- Clinvar variants
- Variants in CRYBA4
- 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
Ellen McDonagh (Genomics England Curator)Mode of inheritance for CRYBA4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()CRYBA4 was added to Cataractspanel. Sources: UKGTN
Added New Source
GEL ()CRYBA4 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen