Haemoglobinopathy Variant Curation Expert Panel

The Haemoglobinopathy Curation Expert Panel (VCEP), is a joint international effort between the ITHANET portal and the Global Globin Network of the Human Variome Project counting with the participation of ERN-EuroBloodNet members, including the CIAS’ member Celeste Bento.

Recently, ClinGen officially recognised the Hemoglobinopathy Variant Curation Expert Panel (VCEP) as a ClinGen Expert Panel for standardised annotation of variants related to haemoglobinopathies.

Having successfully completed step 1 of the ClinGen Expert Panel application process, the Hemoglobinopathy VCEP has already adapted the ACMG/AMP framework for use in haemoglobinopathies and submitted the final set of the specified criteria, and is currently ready to start the variant curation pilot study to inform further refinement of the proposed guidelines.

More information in HERE.

Haemoglobinopathy Variant Curation Expert Panel

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