Long QT Syndrome
Gene: CALM2EnsemblGeneIds (GRCh38): ENSG00000143933
EnsemblGeneIds (GRCh37): ENSG00000143933
OMIM: 114182, Gene2Phenotype
CALM2 is in 5 panels
1 review
Ivan Macciocca (Victorian Clinical Genetics Services)
strong evidence for causality in LQTS with atypical features presenting in childhood - presentation typically in infancy or early childhood (up to 5 years) with marked bradycardia or atrioventricular block associated with severe QT prolongation, a presentation that is seen only rarely in LQTS related to SCN5A and KCNH2 genetic defects as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group
Sources: Expert listCreated: 31 May 2020, 1:28 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
long QT syndrome
Publications
- PMID: 31983240
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Long QT syndrome 15, MIM# 616249
- OMIM
- 114182
- Clinvar variants
- Variants in CALM2
- Penetrance
- unknown
- Publications
-
- PMID: 31983240
- Panels with this gene
History Filter Activity
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 long QT syndrome to Long QT syndrome 15, MIM# 616249
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: calm2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ivan Macciocca (Victorian Clinical Genetics Services)gene: CALM2 was added gene: CALM2 was added to Long QT Syndrome. Sources: Expert list Mode of inheritance for gene: CALM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CALM2 were set to PMID: 31983240 Phenotypes for gene: CALM2 were set to long QT syndrome Penetrance for gene: CALM2 were set to unknown Review for gene: CALM2 was set to GREEN gene: CALM2 was marked as current diagnostic