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  2. Long QT Syndrome
  3. CALM1
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Long QT Syndrome

Gene: CALM1

Green List (high evidence)
CALM1 (calmodulin 1)
EnsemblGeneIds (GRCh38): ENSG00000198668
EnsemblGeneIds (GRCh37): ENSG00000198668
OMIM: 114180, Gene2Phenotype
CALM1 is in 5 panels

1 review

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
Sources: Expert Review
Created: 31 May 2020, 1:26 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
long QT syndrome

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

Created: 31 May 2020, 1:26 p.m.

Panel version: 0.7

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Long QT syndrome 14, MIM# 616247
OMIM
114180
Clinvar variants
Variants in CALM1
Penetrance
unknown
Panels with this gene

History Filter Activity

1 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: calm1 has been classified as Green List (High Evidence).

1 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CALM1 were changed from long QT syndrome to Long QT syndrome 14, MIM# 616247

1 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: calm1 has been classified as Green List (High Evidence).

31 May 2020, Gel status: 0

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

Ivan Macciocca (Victorian Clinical Genetics Services)

gene: CALM1 was added gene: CALM1 was added to Long QT Syndrome. Sources: Expert Review Mode of inheritance for gene: CALM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CALM1 were set to long QT syndrome Penetrance for gene: CALM1 were set to unknown Review for gene: CALM1 was set to GREEN gene: CALM1 was marked as current diagnostic