Dilated and arrhythmogenic cardiomyopathy
Gene: CD36EnsemblGeneIds (GRCh38): ENSG00000135218
EnsemblGeneIds (GRCh37): ENSG00000135218
OMIM: 173510, Gene2Phenotype
CD36 is in 2 panels
1 review
Oliver Watkinson (NHS)
There are now a couple of major publications (listed) using demonstrating that a relatively common variant in this gene (Y325*) is responsible for quite a large burden of dilated cardiomyopathy in patients of African ancestry, particularly in homozygous state. I'm not sure (yet) how we would handle this variant in terms of cascade testing, but I think it might be helpful diagnostically for this variant to be included on this panel.
Sources: OtherCreated: 20 Oct 2026, 8:56 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Dilated cardiomyopathy
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Dilated cardiomyopathy
- OMIM
- 173510
- Clinvar variants
- Variants in CD36
- Penetrance
- Incomplete
- Publications
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Oliver Watkinson (NHS)gene: CD36 was added gene: CD36 was added to Dilated and arrhythmogenic cardiomyopathy. Sources: Other Mode of inheritance for gene: CD36 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: CD36 were set to PMID 41174181; 42895716 Phenotypes for gene: CD36 were set to Dilated cardiomyopathy Penetrance for gene: CD36 were set to Incomplete Review for gene: CD36 was set to AMBER