Familial Hypercholesterolemia Variant Curation Expert Panel


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.

Expert Status - In progress

Step 1
Step 2
Step 3
Step 4
Define Group
Complete
Develop Classification Rules
Completed
Pilot Rules
In progress
Expert Panel Approval

Leadership

Joshua W. Knowles, MD, PhD

Mafalda Bourbon, PhD


Coordinators

Please contact a coordinator if you have questions.

C. Lisa Kurtz, PhD
lisa_kurtz@med.unc.edu


Membership

19 members contribute to the FH Variant EP. All Members
What is VARIANT CURATION?

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.