Specification of ACMG/AMP guidelines for standardized variant interpretation in familial hypercholesterolemia: On behalf of the ClinGen FH Variant Curation Expert Panel

Iacocca, M.A.; Chora, J.R.; Freiberger, T.; Carrie, A.; Sijbrands, E.J.; Wand, H.; Williams, M.; Kurtz, C.L.; Tichy, L.; Alves, A.C.; Zimmermann, H.; Meredith, A.; Wang, J.; Cuchel, M.; Hooper, A.J.; Humphries, S.E.; Defesche, J.C.; Santos, R.D.; Kullo, I.J.; Brunham, L.R.; Hegele, R.A.; Knowles, J.W.; Bourbon, M.

http://hdl.handle.net/10400.18/7695

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Familial Hypercholesterolemia (FH): Lipid metabolism autosomal dominant condition; Patients present elevated low-density lipoprotein cholesterol (LDL-C) and total cholesterol (TC) values since childhood → increased risk of atherosclerotic cardiovascular disease; High heterozygote prevalence (1/250); Homozygous rare (1/1 000 000); Caused by pathogenic variants in LDLR (>90%), APOB (5-10%) and PCSK9 (1-3%) genes.