Hypertrophic cardiomyopathy_HCM
Gene: CORINEnsemblGeneIds (GRCh38): ENSG00000145244
EnsemblGeneIds (GRCh37): ENSG00000145244
OMIM: 605236, Gene2Phenotype
CORIN is in 3 panels
1 review
Daniel Flanagan (Victorian Clinical Genetics Services)
Two siblings with a homozygous loss-of-function variant in CORIN. Both presented with left atrial hypertrophic cardiomyopathy, hypertension, fibrosis, and arrhythmia isolated to the left atrium. A plasma sample obtained from one of the siblings had no detectable levels of corin.
One sibling also had a het variant, p.(Ser571Thr), in PKP2 (associated with AD ARVC). The PKP2 variant is LP/VUS in ClinVar.
Cor-/- mice exhibit cardiac hypertrophy resulting in a mild decline in cardiac function later in life. Cor-/- mice also have spontaneous hypertension.
Sources: Expert listCreated: 7 Mar 2024, 12:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Cardiomyopathy, familial hypertrophic, 30, atrial (MIM:620734)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- ?Cardiomyopathy, familial hypertrophic, 30, atrial (MIM:620734)
- OMIM
- 605236
- Clinvar variants
- Variants in CORIN
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: corin has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: corin has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Daniel Flanagan (Victorian Clinical Genetics Services)gene: CORIN was added gene: CORIN was added to Hypertrophic cardiomyopathy_HCM. Sources: Expert list Mode of inheritance for gene: CORIN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CORIN were set to 37913506; 15637153 Phenotypes for gene: CORIN were set to ?Cardiomyopathy, familial hypertrophic, 30, atrial (MIM:620734) Review for gene: CORIN was set to RED