Previous cardiomyopathies - including childhood onset
Gene: CRYAB
OMIM#615184 Cardiomyopathy, dilated, 1II; OMIM# 613763 Cataract 16, multiple types; OMIM#608810 Myopathy, myofibrillar, 2; OMIM#613869 Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-relatedCreated: 25 Mar 2019, 4:30 p.m.
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. HGMD: 24 DM variants associated mainly with paeditaric cataracts though some patients can have cardiomyopathy and myopathy. Some truncating variants associated with cardiomyopathy. A number of variants have functional studies eg: Raju (2013) Biochem Biophys Res Commun 430: 107 PubMed: 23194663 of a variant assoc with cataracts, cardiomyopathy and myopathy. van der Smagt Clin Genet. 2014 Apr;85(4):381-5. doi: 10.1111/cge.12169: present a case of adult onset DCM.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Source South West GLH was added to CRYAB. Mode of inheritance for gene CRYAB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sarah Leigh: Associated with relevant pheno
Added phenotypes Myopathy, myofibrillar, fatal infantile hypertrophy, alpha B crystallin related, 613869 for gene: CRYAB
gene: CRYAB was added gene: CRYAB was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Amber Mode of inheritance for gene: CRYAB was set to Unknown Phenotypes for gene: CRYAB were set to Cardiomyopathy, dilated, 1II,