Sudden cardiac death - previous panel
Gene: CRYABEnsemblGeneIds (GRCh38): ENSG00000109846
EnsemblGeneIds (GRCh37): ENSG00000109846
OMIM: 123590, Gene2Phenotype
CRYAB is in 13 panels
1 review
Ellen McDonagh (Genomics England Curator)
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Amber
- London South GLH
- London South GLH
- Expert Review Amber
- Phenotypes
-
- Myopathy, myofibrillar, fatal infantile hypertrophy, alpha B crystallin related, 613869
- Cardiomyopathy, dilated, 1II,
- OMIM
- 123590
- Clinvar variants
- Variants in CRYAB
- Penetrance
- None
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Hereditary neuropathy or pain disorder
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Dilated Cardiomyopathy and conduction defects
- Bilateral congenital or childhood onset cataracts
- DDG2P
- Hereditary neuropathy
- Distal myopathies
- Arthrogryposis
- Dilated and arrhythmogenic cardiomyopathy
- Structural eye disease
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: CRYAB was added gene: CRYAB was added to Sudden cardiac death. Sources: London South GLH,Expert Review Amber Mode of inheritance for gene: CRYAB was set to Unknown Phenotypes for gene: CRYAB were set to Myopathy, myofibrillar, fatal infantile hypertrophy, alpha B crystallin related, 613869; Cardiomyopathy, dilated, 1II,