Hypertrophic cardiomyopathy - teen and adult

Gene: CASQ2

Red List (low evidence)

CASQ2 (calsequestrin 2)
EnsemblGeneIds (GRCh38): ENSG00000118729
EnsemblGeneIds (GRCh37): ENSG00000118729
OMIM: 114251, Gene2Phenotype
CASQ2 is in 6 panels

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

Ventricular tachycardia, catecholaminergic polymorphic, 2 (611938)
Created: 25 Mar 2019, 4:30 p.m.
ON HGMD assoc with CPVT and ventricular tachycardia (Good evidence).
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

On the Inherited Cardiac Condition Genes panel for Hypertrophic 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 = 1.
Created: 19 Feb 2016, 11:50 a.m.

Publications

  • 17655857
  • doi:10.​1007/​s12265-016-9673-5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy
  • Left ventricular non-compaction
  • Catecholaminergic polymorphic ventricular tachycardia
OMIM
114251
Clinvar variants
Variants in CASQ2
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 CASQ2. Mode of inheritance for gene CASQ2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

19 Feb 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CASQ2 was added to Hypertrophic Cardiomyopathypanel. Sources: Literature

19 Feb 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CASQ2 was created by ellenmcdonagh