Additional findings_Adult
Gene: CASQ2EnsemblGeneIds (GRCh38): ENSG00000118729
EnsemblGeneIds (GRCh37): ENSG00000118729
OMIM: 114251, Gene2Phenotype
CASQ2 is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Included in ACMG SF V3.0 list as risk fo sudden death with preventative interventions available.
Sources: Expert listCreated: 26 May 2021, 7:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938
- OMIM
- 114251
- Clinvar variants
- Variants in CASQ2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: casq2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: casq2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CASQ2 was added gene: CASQ2 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CASQ2 were set to 34012068 Phenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938 Review for gene: CASQ2 was set to GREEN