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  3. CALM1
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Short QT syndrome

Gene: CALM1

Red List (low evidence)
CALM1 (calmodulin 1)
EnsemblGeneIds (GRCh38): ENSG00000198668
EnsemblGeneIds (GRCh37): ENSG00000198668
OMIM: 114180, Gene2Phenotype
CALM1 is in 3 panels

2 reviews

James Eden (Manchester)

Red List (low evidence)

Gene currently tested by alternative panel, very few short QT referrals to date. 12 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: gene not curated (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Long QT syndrome 14 (616247); Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916)

Publications

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

Created: 14 Feb 2019, 1:38 p.m.

Panel version: 1.4

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Not associated with Short QT phenotype in OMIM or in Gen2Phen. Listed on the Long QT syndrome panel (Version 1.5) and Emory Genetics Laboratory's Long and Short QT SyndromesSequencing Panel.
Created: 15 Nov 2018, 12:10 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 15 Nov 2018, 12:10 p.m.

Panel version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • North West GLH
  • Emory Genetics Laboratory
  • Long QT syndrome (Version 1.5)
Phenotypes
  • Long QT syndrome 14 (616247)
  • Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916)
OMIM
114180
Clinvar variants
Variants in CALM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Feb 2019, Gel status: 1

Added New Source, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to CALM1. Added phenotypes Long QT syndrome 14 (616247); Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916) for gene: CALM1 Publications for gene CALM1 were changed from to 30420954; 19862833; 16301704

20 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Not associated with Short QT p

15 Nov 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Sarah Leigh (Genomics England Curator)

gene: CALM1 was added gene: CALM1 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5),Emory Genetics Laboratory Mode of inheritance for gene: CALM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted