{"id":947,"date":"2016-11-07T21:24:25","date_gmt":"2016-11-07T21:24:25","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=947"},"modified":"2026-02-24T21:16:51","modified_gmt":"2026-02-24T21:16:51","slug":"the-ucl-low-density-lipoprotein-receptor-gene-variant-database-pathogenicity-update","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2016\/11\/07\/the-ucl-low-density-lipoprotein-receptor-gene-variant-database-pathogenicity-update\/","title":{"rendered":"The UCL Low-Density Lipoprotein Receptor Gene Variant Database: Pathogenicity Update (Contributed by Dr. Sarah Leigh)"},"content":{"rendered":"<p>Familial hypercholesterolemia (FH) is a common genetic disorder frequently caused by low-density lipoprotein receptor (<em>LDLR<\/em>) gene variants.\u00a0 Patients with FH have high levels of LDL-cholesterol leading to cardiovascular disease including premature heart attacks.\u00a0 We report an update of the <a href=\"http:\/\/databases.lovd.nl\/shared\/genes\/LDLR\">UCL <em>LDLR <\/em>variant database<\/a> which is used widely by clinicians and researchers as a catalogue of published variant information and pathogenicity predictions. Over 1700 unique <em>LDLR<\/em> variants have been reported globally, of which we suggest that 76% are likely to be, or are probably pathogenic, 17% are unlikely to be, or are probably not pathogenic and the remaining 7% are variants of unknown significance, where additional family and <em>in vitro<\/em> studies will be required to confirm or refute their pathogenicity. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/11\/07\/jmedgenet-2016-104054\">http:\/\/jmg.bmj.com\/content\/early\/2016\/11\/07\/jmedgenet-2016-104054<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Familial hypercholesterolemia (FH) is a common genetic disorder frequently caused by low-density lipoprotein receptor (LDLR) gene variants.\u00a0 Patients with FH have high levels of LDL-cholesterol leading to cardiovascular disease including premature heart attacks.\u00a0 We report an update of the UCL LDLR variant database which is used widely by clinicians and researchers as a catalogue of [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2016\/11\/07\/the-ucl-low-density-lipoprotein-receptor-gene-variant-database-pathogenicity-update\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-947","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - 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