Bilateral congenital or childhood onset cataracts
Gene: CRYABEnsemblGeneIds (GRCh38): ENSG00000109846
EnsemblGeneIds (GRCh37): ENSG00000109846
OMIM: 123590, Gene2Phenotype
CRYAB is in 13 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
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
Ellen McDonagh (Genomics England Curator)
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Cataract 16, multiple types, OMIM:613763
- Myopathy, myofibrillar, 2, OMIM:608810
- OMIM
- 123590
- Clinvar variants
- Variants in CRYAB
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Structural eye disease
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Dilated Cardiomyopathy and conduction defects
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Distal myopathies
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
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 CRYAB was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for CRYAB was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
GEL ()CRYAB was added to Cataractspanel. Sources: UKGTN
Added New Source
GEL ()CRYAB was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()CRYAB was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen