Catecholaminergic Polymorphic Ventricular Tachycardia
Gene: CALM2EnsemblGeneIds (GRCh38): ENSG00000143933
EnsemblGeneIds (GRCh37): ENSG00000143933
OMIM: 114182, Gene2Phenotype
CALM2 is in 5 panels
1 review
Ivan Macciocca (Victorian Clinical Genetics Services)
Not assessed by ClinGen as at 03.05.2020.
Green in PanelApp GEL
Pathogenic and likely pathogenic CALM 1, 2 and 3 variants have been asscoiated with CPVT, LQTS and Idopathic VF (incldundg sudden unexplained death) in a review paper formt he CALM registry (PMID: 31170290). For CPVT at least:
- 7 families have been reported with one of 2 CALM1 P/LP variants, both variants caused overlapping phenotype of LQTS, CPVT and/or SUD
- 8 families have been reported with one of 4 CALM2 P/LP variants, 3 of which caused overlapping phenotype of LQTS, CPVT and/or SUD
- 2 families have been reported with one of 2 CALM3 P/LP variants, both of which caused CPVT exclusively.
Calmodulin is an essential calcium-sensing, signal-transducing protein. Three calmodulin genes, CALM1, CALM2 and CALM3, have unique nucleotide sequences but encode identical 149-amino acid calmodulin proteins with 4 EF-hand calcium-binding loops. (OMIM: https://omim.org/entry/114180?search=CALM1&highlight=calm1#7, accessed 03.05.2020)Created: 3 Jun 2020, 2:28 a.m. | Last Modified: 3 Jun 2020, 2:30 a.m.
Panel Version: 0.10
Phenotypes
LQTS; sudden unexplained death; idopathic VF
Publications
- PMID: 31170290
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Long QT syndrome 15 616249
- sudden unexplained death
- idopathic VF
- OMIM
- 114182
- Clinvar variants
- Variants in CALM2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set mode of inheritance
Ain Roesley (Victorian Clinical Genetics Services)Mode of inheritance for gene: CALM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: calm2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CALM2 were changed from to Long QT syndrome 15 616249; sudden unexplained death; idopathic VF
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CALM2 were set to
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CALM2 was added gene: CALM2 was added to Catecholaminergic polymorphic ventricular tachycardia (CPVT)_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CALM2 was set to Unknown