Hypertrophic cardiomyopathy - teen and adult

Gene: CALR3

Red List (low evidence)

CALR3 (calreticulin 3)
EnsemblGeneIds (GRCh38): ENSG00000269058
EnsemblGeneIds (GRCh37): ENSG00000269058
OMIM: 611414, Gene2Phenotype
CALR3 is in 2 panels

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

omim 611414 no phenotype
Created: 25 Mar 2019, 4:30 p.m.
HGMD: 2 x DM variants associated with HCM; Chiu (2007) J Mol Cell Cardiol 43: 337 PubMed: 17655857 - both variants reported here are reported in ESP population.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
Unknown

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

Details

Mode of Inheritance
Unknown
Sources
  • South West GLH
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 19
OMIM
611414
Clinvar variants
Variants in CALR3
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to CALR3. Mode of inheritance for gene CALR3 was changed from to Unknown

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CALR3 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CALR3 was added to Hypertrophic Cardiomyopathypanel. Sources: Radboud University Medical Center, Nijmegen