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 - teen and adult

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.20
Latest signed off version: v2.11 (15 Oct 2020)

Component of the following Super Panels:

  • Sudden cardiac death
  • 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 2.18
    Latest signed off version: v2.5 (20 Aug 2020)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden cardiac death
  • 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 1.384

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiomyopathy

    Red CASQ2 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.25
    Latest signed off version: v1.2 (27 Feb 2020)

    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 1.76

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