Hypertrophic cardiomyopathy_HCM
Gene: CALR3EnsemblGeneIds (GRCh38): ENSG00000269058
EnsemblGeneIds (GRCh37): ENSG00000269058
OMIM: 611414, Gene2Phenotype
CALR3 is in 2 panels
1 review
Kristin Rigbye (Victorian Clinical Genetics Services)
No OMIM phenotype association.
Gene-disease association not well established.
Considered to be associated with HCM by ClinGen (last reviewed in 2017), but refuted in 2018 (PMID: 29988065), and considered as having no evidence in the Atlas of Cardiac Genetic Variation. Gene not listed in the Cardiomyopathy Database.Created: 31 Mar 2020, 1:35 a.m. | Last Modified: 31 Mar 2020, 1:35 a.m.
Panel Version: 0.18
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypertrophic cardiomyopathy
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Hypertrophic cardiomyopathy
- Tags
- OMIM
- 611414
- Clinvar variants
- Variants in CALR3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: calr3 has been classified as Red List (Low Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag refuted tag was added to gene: CALR3.
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CALR3 were changed from to Hypertrophic cardiomyopathy
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CALR3 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CALR3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: calr3 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CALR3 was added gene: CALR3 was added to Hypertrophic cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CALR3 was set to Unknown