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Cardiomyopathies - including childhood onset

Gene: CRYAB

Amber List (moderate evidence)

CRYAB (crystallin alpha B)
EnsemblGeneIds (GRCh38): ENSG00000109846
EnsemblGeneIds (GRCh37): ENSG00000109846
OMIM: 123590, Gene2Phenotype
CRYAB is in 15 panels

2 reviews

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Rebecca Whittington (South West GLH)

I don't know

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-related
Created: 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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • South West 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

History Filter Activity

2 Dec 2019, Gel status: 2

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CRYAB.

4 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: CRYAB was added gene: CRYAB was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Amber,South West GLH Mode of inheritance for gene: CRYAB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CRYAB were set to Myopathy, myofibrillar, fatal infantile hypertrophy, alpha B crystallin related, 613869; Cardiomyopathy, dilated, 1II,