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Recommendations for LDLR variant interpretation by the ClinGen’s Familial Hypercholesterolemia Expert Panel

2020-11Conference object Restricted access
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dc.contributor.authorChora, J.R.
dc.contributor.authorIacocca, M.
dc.contributor.authorTichy, L.
dc.contributor.authorWand, H.
dc.contributor.authorKurtz, L.C.
dc.contributor.authorZimmermann, H.
dc.contributor.authorMeredith, A.L.
dc.contributor.authorWilliams, M.
dc.contributor.authorHumphries, S.E.
dc.contributor.authorHooper, A.J.
dc.contributor.authorBrunham, L.
dc.contributor.authorPereira, A.C.
dc.contributor.authorChen, M.
dc.contributor.authorWang, J.
dc.contributor.authorTrinder, M.
dc.contributor.authorJannes, C.E.
dc.contributor.authorChonis, J.
dc.contributor.authorKim, S.
dc.contributor.authorPesaran, T.
dc.contributor.authorJohnston, T.
dc.contributor.authorCarrie, A.
dc.contributor.authorLeigh, S.
dc.contributor.authorHegele, R.A.
dc.contributor.authorSijbrands, E.
dc.contributor.authorFreiberger, T.
dc.contributor.authorKnowles, J.W.
dc.contributor.authorBourbon, M.
dc.date.accessioned2021-04-30T15:07:10Z
dc.date.available2021-04-30T15:07:10Z
dc.date.issued2020-11
dc.description.abstractFamilial 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.pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/7716
dc.language.isoengpt_PT
dc.publisherInstituto Nacional de Saúde Doutor Ricardo Jorge, IPpt_PT
dc.subjectFamilial Hypercholesterolemiapt_PT
dc.subjectRecommendationspt_PT
dc.subjectLDLR Variantpt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.titleRecommendations for LDLR variant interpretation by the ClinGen’s Familial Hypercholesterolemia Expert Panelpt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.title24th Annual Meeting of the Portuguese Society of Human Genetics. Virtual Meeting, November 20, 2020pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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