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Molecular autopsy

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: 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: 0.82

Details

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

History Filter Activity

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to CASQ2.

14 Feb 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to CASQ2. Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 2 (611938) for gene: CASQ2 Publications for gene CASQ2 were changed from to 27761157; 19121813

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Left ventricular non-compaction; Hypertrophic cardiomyopathy; Catecholaminergic polymorphic ventricular tachycardia for gene: CASQ2

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CASQ2 was added gene: CASQ2 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic, 2