12 May 2021

ClinGen: Defining the genes and variants that cause PAH

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  • Carrie Welch // PH Gene Curation Expert Panel and PAH gene curation overview
  • Arjan Houweling // Detailed curation: KDR
  • Carrie Welch // Curation summary: BMPR2
  • Srimmitha Balachandar // Curation summary: TBX4
  • Laura Southgate // Curation summary: KCNK3
  • Stefan Graf // Curation summary: SMAD9
  • Rajiv Machado // Curation summary: GDF2
  • Jair Tenorio // Curation summary: ATP13A3
  • Christina Eichstaed // Curation summary: AQP1
  • Wendy Chung // ClinGen PH GCEP Future directions


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