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| Dilated and arrhythmogenic cardiomyopathy v4.11 | CD36 |
Oliver Watkinson 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 Added comment: 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: Other |
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