Expert Panel Description
The Haemoglobinopathy Expert Panel is focused on the review and annotation of variants that are related to haemoglobinopathies, the commonest monogenic diseases in the world. A five-tier classification scheme will be used to classify the pathogenicity of all variants, based on the criteria proposed by the American College of Medical Genomics and Genetics (ACMG) and the Association for Molecular Pathology (AMP). The Haemoglobinopathy Expert Panel will modify the standard ACMG/AMP criteria and will test their applicability in haemoglobinopathies before proceeding with classification and interpretation of all variants.
Haemoglobinopathy EP Membership
Executive Leadership
Coordinators
Members
- Hashim Halim-Fikri
- Franck Nzengu Lukusa
- Johan T. den Dunnen, PhD
- Nikoletta Psatha, PhD
- Tamara Koopmann, PhD
| Name | Role |
|---|---|
| Marina Kleanthous, PhD | Executive Leadership |
| Petros Kountouris, PhD | Coordinator |
| Carsten W. Lederer, PhD | Member |
| Coralea Stephanou, PhD | Member |
| Bin Alwi Zilfalil, MD | Member |
| Hashim Halim-Fikri | Member |
| Jacques Elion, PhD | Member |
| Catherine Badens, PhD | Member |
| Léon Tshilolo, MD | Member |
| Franck Nzengu Lukusa | Member |
| Suthat Fucharoean, MD | Member |
| Jan Traeger-Synodinos, PhD | Member |
| Irini Fylaktou, PhD | Member |
| Cornelis L. Harteveld, PhD | Member |
| Johan T. den Dunnen, PhD | Member |
| Nikoletta Psatha, PhD | Member |
| Michael Angastiniotis, MD | Member |
| Antonio Piga, MD | Member |
| Swee Lay Thein, MD | Member |
| Raj Ramesar, PhD | Member |
| Bertha Ibarra Cortes, PhD | Member |
| Celeste Bento, PhD | Member |
| Thessalia Papasavva, PhD | Member |
| Tamara Koopmann, PhD | Member |
Committees
Core Task Team
- Marina Kleanthous, PhD
- Carsten W. Lederer, PhD
- Léon Tshilolo, MD
- Jan Traeger-Synodinos, PhD
- Cornelis L. Harteveld, PhD
- Celeste Bento, PhD
- Thessalia Papasavva, PhD
Curators
- Petros Kountouris, PhD
- Coralea Stephanou, PhD
- Hashim Halim-Fikri
- Franck Nzengu Lukusa
- Irini Fylaktou, PhD
- Nikoletta Psatha, PhD
- Tamara Koopmann, PhD