P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency*

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked genetic condition affecting an estimated 400-500 million people worldwide and is one of the genetic causes of chronic hemolytic anemia and drug-, food-, or infection-induced hemolytic anemia. Most G6PD-deficient individuals are asymptomatic unless exposed to a triggering event (eg, fava beans, certain drugs), which can result in life-threatening acute hemolytic anemia. In neonates, G6PD deficiency increases the risk for severe hyperbilirubinemia and kernicterus, which is associated with increased morbidity and mortality.