Browsing by Author "Meredith, A.L."
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- Recommendations for LDLR variant interpretation by the ClinGen’s Familial Hypercholesterolemia Expert PanelPublication . Chora, J.R.; Iacocca, M.; Tichy, L.; Wand, H.; Kurtz, L.C.; Zimmermann, H.; Meredith, A.L.; Williams, M.; Humphries, S.E.; Hooper, A.J.; Brunham, L.; Pereira, A.C.; Chen, M.; Wang, J.; Trinder, M.; Jannes, C.E.; Chonis, J.; Kim, S.; Pesaran, T.; Johnston, T.; Carrie, A.; Leigh, S.; Hegele, R.A.; Sijbrands, E.; Freiberger, T.; Knowles, J.W.; Bourbon, M.Familial Hypercholesterolemia (FH): - Lipid metabolism autosomal dominant condition; - Elevated low-density lipoprotein cholesterol (LDL-C) and total cholesterol (TC) values since childhood → increased risk of atherosclerotic cardiovascular disease; - High heterozygote prevalence (1/250-1/500); Homozygous rare (1/ 300 000- 1/ 1 000 000); - Caused by pathogenic variants in LDLR (>90%), APOB (5- 10%) and PCSK9 (1-3%) genes; -Marked increase in FH variants submitted to ClinVar; -45% of variants were classified with more than one method and 466 variants submitted with potential clinical significance had conflicting or no classifications.