Structural eye disease
Gene: CRYABEnsemblGeneIds (GRCh38): ENSG00000109846
EnsemblGeneIds (GRCh37): ENSG00000109846
OMIM: 123590, Gene2Phenotype
CRYAB is in 13 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
congenital/early onset cataract gene, no evidence for involvement in AMCCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
CATARACT 16, MULTIPLE TYPES; 613763
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). congenital/early onset cataract gene, no evidence for involvement in AMCCreated: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
CATARACT 16, MULTIPLE TYPES; 613763
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Phenotypes
-
- Cataract 16, multiple types, OMIM:613763
- OMIM
- 123590
- Clinvar variants
- Variants in CRYAB
- Penetrance
- None
- 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 CATARACT 16, MULTIPLE TYPES, 613763 to Cataract 16, multiple types, OMIM:613763
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: CRYAB was added gene: CRYAB was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: CRYAB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CRYAB were set to CATARACT 16, MULTIPLE TYPES, 613763