Gene Symbol:
CASQ2
HGNC:1513
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1p13.1
Filters:

Definitive classifications

catecholaminergic polymorphic ventricular tachycardia
AR
01/20/2021
Evaluated
01/16/2023
Submitted

Strong classifications

catecholaminergic polymorphic ventricular tachycardia 2
Submitted as: OMIM:611938
AR
12/24/2020
Evaluated
03/31/2021
Submitted

Moderate classifications

catecholaminergic polymorphic ventricular tachycardia 2
Submitted as: OMIM:611938
AR
08/31/2018
Evaluated
12/24/2020
Submitted
catecholaminergic polymorphic ventricular tachycardia
AD
01/20/2021
Evaluated
01/16/2023
Submitted

Supportive classifications

catecholaminergic polymorphic ventricular tachycardia
Submitted as: Orphanet:3286
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Disputed Evidence classifications

hypertrophic cardiomyopathy
AD
05/10/2022
Evaluated
01/16/2023
Submitted

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