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Newborns main panel

Gene: CASQ2

Amber List (moderate evidence)
CASQ2 (calsequestrin 2)
EnsemblGeneIds (GRCh38): ENSG00000118729
EnsemblGeneIds (GRCh37): ENSG00000118729
OMIM: 114251, Gene2Phenotype
CASQ2 is in 5 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Demoted from Green to Amber due to advice from clinical experts.
Created: 26 Jun 2024, 9:13 a.m. | Last Modified: 26 Jun 2024, 9:13 a.m.
Panel Version: 0.466
Created: 26 Jun 2024, 9:13 a.m.
Last Modified: 26 Jun 2024, 9:13 a.m.
Panel version: 0.466

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 10 Oct 2023, 2:51 p.m. | Last Modified: 10 Oct 2023, 2:51 p.m.
Panel Version: 0.247
CASQ2 curation results (clinicalgenome.org)
Created: 14 Sep 2023, 11:02 a.m. | Last Modified: 14 Sep 2023, 11:02 a.m.
Panel Version: 0.238
Created: 14 Sep 2023, 11:02 a.m.
Last Modified: 14 Sep 2023, 11:02 a.m.
Panel version: 0.247

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 2
Tags
internal_inclusion_list_only
OMIM
114251
Clinvar variants
Variants in CASQ2
Penetrance
None
Panels with this gene

History Filter Activity

26 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: casq2 has been classified as Amber List (Moderate Evidence).

27 Feb 2024, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag internal_inclusion_list_only tag was added to gene: CASQ2.

14 Sep 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

gene: CASQ2 was added gene: CASQ2 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic, 2