Incidentalome

Gene: CASQ2

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938

Green List (high evidence)

Biallelic loss-of-function variants in CASQ2 are definitively associated with CPVT by the ClinGen expert panel.

Monoallelic CASQ2 variants have moderate evidence for CPVT by the ClinGen expert panel.

Created: 11 Oct 2021, 5:27 a.m. | Last Modified: 11 Oct 2021, 5:27 a.m.

Panel Version: 0.26

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
CPVT

Green List (high evidence)

not curated by ClinGen as at 03/05/2020
Green in PanelApp GEL

Homozygous or compound heterozygous variants have been reported in at least 3 families. Heterozygotes are typically not affected, although there is at least 1 report of a multi-generation family with affected heterozygotes (PMID: 27157848) - this variant is absent from Gnomad as at 03/06/2020). Functional studies on the variants identified in these families support a deleterious effect. Variants reported in the original gene discovery papers are either no present, or present at very low frequency (2 or less) in GnomAD/Exac.

Created: 3 Jun 2020, 2:46 a.m. | Last Modified: 3 Jun 2020, 5:05 a.m.

Panel Version: 0.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CPVT

Publications

• OMID: 611938
• 611938