CASQ2

calsequestrin 2
OMIM: 114251, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Red CASQ2 in Left Ventricular Noncompaction Cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 1.5	review	Not set	Sources Expert Review Red Expert list
Red CASQ2 in Hypertrophic cardiomyopathy Level 2: Cardiology Version 5.29 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Literature Phenotypes Hypertrophic cardiomyopathy Left ventricular non-compaction Catecholaminergic polymorphic ventricular tachycardia
Green CASQ2 in Catecholaminergic polymorphic VT Level 2: Cardiology Version 5.3 Latest signed off version: v5.1 (30 Apr 2025) Component of the following Super Panels: Cardiac arrhythmias Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH London South GLH North West GLH Expert Review Green UKGTN Expert list Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 2, OMIM:611938
Red CASQ2 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory Phenotypes Cardiomyopathy
Red CASQ2 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy