Bilateral congenital or childhood onset cataracts
Gene: CRYBA1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cataract 10, multiple types, 600881
Variants in this GENE are reported as part of current diagnostic practice
Is on the Manchester congenital cataracts gene panel. It is a confirmed DD gene for cataract congenital zonular with sutural opacities. Associated with Cataract 10, multiple types in OMIM.Created: 25 Apr 2016, 9:01 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
cataract congenital zonular with sutural opacities; Cataract 10, multiple types
This gene has been classified as Green List (High Evidence).
Phenotypes for CRYBA1 were set to Cataract 10, multiple types, 600881; cataract congenital zonular with sutural opacities; Cataract 10, multiple types
Mode of inheritance for CRYBA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
CRYBA1 was added to Cataractspanel. Sources: UKGTN
CRYBA1 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen