Sudden cardiac death - previous panel

Gene: CRYAB

Amber List (moderate evidence)

CRYAB (crystallin alpha B)
EnsemblGeneIds (GRCh38): ENSG00000109846
EnsemblGeneIds (GRCh37): ENSG00000109846
OMIM: 123590, Gene2Phenotype
CRYAB is in 14 panels

1 review

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.

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

History Filter Activity

9 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 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,