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 1.0

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


Level 2: Cardiovascular disorders
Version 2.0

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 1.0

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 2.0

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 1.0

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 1.0

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 3.0

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 2.0

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 1.0

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 3.0

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