Familial Hypercholesterolemia is an autosomal disorder of lipid metabolism. Patients have increased LDL values from birth, and an increased cardiovascular risk, making early diagnosis and treatment imperative for improved prognosis. Three main causative genes have been associated with FH: LDLR, APOB and PCSK9. Identification of a pathogenic variant in any of these genes provides a definitive diagnosis.
The goal of the FH Variant Curation Expert Panel is to specifiy the ACMG guidelines for FH in order to correctly classify the thousands of variants that have been identified in these three genes.
|Joshua W. Knowles, MD, PhD||Executive Leadership|
|Mafalda Bourbon, PhD||Executive Leadership|
|Alain Carrie, MD, PhD||Executive Committee|
|Joep Defesche, PhD||Executive Committee|
|Tomas Freiberger, PhD||Executive Committee|
|Rob Hegele, MD||Executive Committee|
|Sarah Leigh, PhD||Executive Committee|
|Eric Sijbrands, MD, PhD||Executive Committee|
|C. Lisa Kurtz, PhD||Coordinator|
|Marina Cuchel, MD, PhD||Member|
|Mariko Harada-Shiba, MD, PhD||Member|
|Amanda Hooper, PhD||Member|
|Steve Humphries, PhD||Member|
|Amit Khera, MD||Member|
|Michael F. Murray, MD||Member|
|Jean-Pierre Rabes, MD, PhD||Member|
|Daniel Rader, MD||Member|
|Raul Santos, MD, PhD||Member|
|Marianne Stef, PhD||Member|
Please contact a coordinator if you have questions.
A systematic process of evaluating evidence to classify a genomic variant on a spectrum from pathogenic to benign with respect to a particular disease and inheritance pattern.