Clinical Domain Working Groups

Pulmonary Hypertension Gene Curation Expert Panel

Membership Documents

Disease area: Pulmonary Hypertension (PH) Group 1, WHO classification - Pulmonary arterial hypertension (PAH), including hereditary and idiopathic PAH and TBX4 syndrome

Gene list: ABCC8, AQP1, ATP13A3, BMP10, BMPR1A, BMPR1B, BMPR2, CAV1, EIF2AK4, FBLN2, GDF2, GGCX, KCNK3, KDR, KLF2, KLK1, NOTCH3, PDGFD, SMAD1, SMAD4, SMAD9, SOX17, TBX4, TET2, TOPBP1

 

Expert Panel Status - Approved Expert Panel

Step 1
Step 2
Define Group
Complete
Expert Panel Approval
Completed Mar. 2020

Documents

Expert Panel Membership

Membership spans many fields, including genetics, medical, academia, and industry.

Coordinators

Past Members