Bilateral congenital or childhood onset cataracts
Gene: CRYAB
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, myofibrillar, 2, 608810; Posterior Polar Cataract
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Kept as both due to information on OMIM, for juvenile cataracts.Created: 14 Jun 2016, 12:19 p.m.
Is on the Manchester congenital cataracts gene panel. Is a possible DD gene for CATARACT POSTERIOR POLAR TYPE 2, and in OMIM is associated with Cataract 16, multiple types, with examples of multiple cases.Created: 22 Apr 2016, 5:01 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CRYAB were changed from Myopathy, myofibrillar, 2, 608810; Posterior Polar Cataract to Cataract 16, multiple types, OMIM:613763; Myopathy, myofibrillar, 2, OMIM:608810
This gene has been classified as Green List (High Evidence).
Mode of inheritance for CRYAB was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for CRYAB was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
CRYAB was added to Cataractspanel. Sources: UKGTN
CRYAB was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services
CRYAB was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen