This Panel is marked as Retired
Dilated Cardiomyopathy (DCM)
Gene: CRYAB
CRYAB (crystallin alpha B)
EnsemblGeneIds (GRCh38): ENSG00000109846
EnsemblGeneIds (GRCh37): ENSG00000109846
OMIM: 123590, Gene2Phenotype
CRYAB is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000109846
EnsemblGeneIds (GRCh37): ENSG00000109846
OMIM: 123590, Gene2Phenotype
CRYAB is in 13 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
On the Inherited Cardiac Condition Genes panel for Dilated cardiomyopathy reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.1007/s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 3.
Created: 19 Feb 2016, 1:56 p.m.
Publications
- 16483541
- doi:10.1007/s12265-016-9673-5
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- Emory Genetics Laboratory
- Expert list
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Cardiomyopathy, dilated, 1II,
- 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
13 Jul 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)CRYAB was added to Dilated Cardiomyopathy (DCM)panel. Sources: Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory
13 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CRYAB was added to Dilated Cardiomyopathy (DCM)panel. Sources: Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory
13 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CRYAB was added to Dilated Cardiomyopathy (DCM)panel. Sources: Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory