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Mendeliome

Gene: CALM3

Green List (high evidence)

CALM3 (calmodulin 3)
EnsemblGeneIds (GRCh38): ENSG00000160014
EnsemblGeneIds (GRCh37): ENSG00000160014
OMIM: 114183, Gene2Phenotype
CALM3 is in 5 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Green for LQTS
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

Amber for CPVT
Pathogenic and likely pathogenic CALM 1, 2 and 3 variants have been asscoiated with CPVT, LQTS and Idopathic VF (including 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.
Created: 28 Mar 2022, 4:20 a.m. | Last Modified: 28 Mar 2022, 4:20 a.m.
Panel Version: 0.12126

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Long QT syndrome 16 MIM#618782; CPVT

Publications

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
  • Victorian Clinical Genetics Services
Phenotypes
  • Long QT syndrome 16 MIM#618782
  • CPVT
OMIM
114183
Clinvar variants
Variants in CALM3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: calm3 has been classified as Green List (High Evidence).

28 Mar 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: CALM3 were changed from to Long QT syndrome 16 MIM#618782; CPVT

28 Mar 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: CALM3 were set to

28 Mar 2022, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: CALM3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CALM3 was added gene: CALM3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CALM3 was set to Unknown