The Haemoglobinopathy Expert Panel

Recognised as an Expert Panel by the Clinical Genome Research (ClinGen)

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.