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  3. CALM3
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Long QT Syndrome

Gene: CALM3

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

2 reviews

Ivan Macciocca (Victorian Clinical Genetics Services)

Green List (high evidence)

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
Created: 31 May 2020, 1:24 p.m. | Last Modified: 31 May 2020, 1:24 p.m.
Panel Version: 0.7

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
long QT syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 31 May 2020, 1:24 p.m.
Last Modified: 31 May 2020, 1:24 p.m.
Panel version: 0.7

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert list
Created: 6 Mar 2020, 8:05 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Long QT syndrome 16, MIM# 618782

Publications

Created: 6 Mar 2020, 8:05 a.m.

Panel version: 0.6

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Long QT syndrome 16, MIM# 618782
OMIM
114183
Clinvar variants
Variants in CALM3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Mar 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CALM3 was added gene: CALM3 was added to Long QT Syndrome. Sources: Expert list Mode of inheritance for gene: CALM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CALM3 were set to 25460178; 31454269 Phenotypes for gene: CALM3 were set to Long QT syndrome 16, MIM# 618782 Review for gene: CALM3 was set to GREEN