Hypertrophic cardiomyopathy - teen and adult

Gene: CRYAB

Red List (low evidence)

CRYAB (crystallin alpha B)
EnsemblGeneIds (GRCh38): ENSG00000109846
EnsemblGeneIds (GRCh37): ENSG00000109846
OMIM: 123590, Gene2Phenotype
CRYAB is in 13 panels

3 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

Cardiomyopathy, dilated, 1II (123590); Myopathy, myofibrillar, 2 (608810)
Created: 25 Mar 2019, 4:30 p.m.
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. 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.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Ellen McDonagh (Genomics England Curator)

I don't know

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.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • "Myopathy, myofibrillar, fatal infantile hypertrophy, alpha ‐ B crystallin ‐ related, 613869"
OMIM
123590
Clinvar variants
Variants in CRYAB
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to CRYAB. Mode of inheritance for gene CRYAB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Feb 2019, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to CRYAB.

13 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CRYAB was changed to Unknown

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CRYAB was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list,Radboud University Medical Center, Nijmegen

13 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CRYAB was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list,Radboud University Medical Center, Nijmegen