CASQ2

calsequestrin 2
OMIM: 114251, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red CASQ2 in Left Ventricular Noncompaction Cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.4

review Not set
Sources
  • Expert Review Red
  • Expert list
Red CASQ2 in Hypertrophic cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 4.6
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • 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 3: Cardiac arrhythmia
    Level 2: Cardiovascular disorders
    Version 4.4
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden unexplained death or survivors of a cardiac event
  • 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 1.476

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiomyopathy
    Red CASQ2 in Hereditary neuropathy or pain disorder


    Version 3.83
    Latest signed off version: v3.24 (15 May 2023)

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    • NHS GMS
    • South West GLH
    Phenotypes
    • Cardiomyopathy
    Green CASQ2 in Severe Paediatric Disorders


    Version 1.182

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938