CASQ2

calsequestrin 2
OMIM: 114251, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green CASQ2 in Catecholaminergic Polymorphic Ventricular Tachycardia


Level 2: Cardiovascular disorders
Version 0.37

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Arrhythmia_SuperPanel
  • 2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938
    Tags
    • treatable

    Red CASQ2 in Hypertrophic cardiomyopathy_HCM


    Level 2: Cardiovascular disorders
    Version 1.20

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • ClinGen
    Phenotypes
    • Hypertrophic cardiomyopathy, MONDO:0005045
    Tags
    • disputed

    Green CASQ2 in Incidentalome


    Version 0.368

    3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938
    Tags
    • cardiac

    Green CASQ2 in Additional findings_Adult


    Level 2: Screening
    Version 1.130

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938

    Green CASQ2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.111

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)

    Green CASQ2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Ventricular tachycardia, catecholaminergic polymorphic

    Green CASQ2 in Prepair 1000+


    Level 2: Screening
    Version 2.15

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)

    Amber CASQ2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BabySeq Category A gene
    Phenotypes
    • Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938
    Tags
    • cardiac
    • treatable

    Green CASQ2 in Transplant Co-Morbidity


    Level 2: Screening
    Version 0.20

    0 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938

    Green CASQ2 in Prepair 500+


    Level 2: Screening
    Version 2.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    • Mackenzie's Mission
    Phenotypes
    • Ventricular tachycardia, catecholaminergic polymorphic, 2 (MIM#611938)