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  3. CASQ2
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Sudden cardiac death - previous panel

Gene: CASQ2

Green List (high evidence)
CASQ2 (calsequestrin 2)
EnsemblGeneIds (GRCh38): ENSG00000118729
EnsemblGeneIds (GRCh37): ENSG00000118729
OMIM: 114251, Gene2Phenotype
CASQ2 is in 5 panels

2 reviews

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.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: Imported from Molecular autopsy panel version 0.86

James Eden (Manchester)

Green List (high evidence)

Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 12 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: association with autosomal recessive CPVT2 (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ventricular tachycardia, catecholaminergic polymorphic, 2 (611938)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Feb 2019, 1:38 p.m.

Panel version: Imported from Molecular autopsy panel version 0.82

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London South GLH
  • North West GLH
  • Expert Review Green
  • London South GLH
  • North West GLH
  • Expert Review Green
Phenotypes
  • Catecholaminergic polymorphic ventricular tachycardia
  • Left ventricular non-compaction
  • Hypertrophic cardiomyopathy
  • Ventricular tachycardia, catecholaminergic polymorphic, 2
  • Ventricular tachycardia, catecholaminergic polymorphic, 2 (611938)
OMIM
114251
Clinvar variants
Variants in CASQ2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: CASQ2 was added gene: CASQ2 was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South GLH Mode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CASQ2 were set to 19121813; 27761157 Phenotypes for gene: CASQ2 were set to Catecholaminergic polymorphic ventricular tachycardia; Left ventricular non-compaction; Hypertrophic cardiomyopathy; Ventricular tachycardia, catecholaminergic polymorphic, 2; Ventricular tachycardia, catecholaminergic polymorphic, 2 (611938)