ABOUT

GATA2 deficiency syndrome (G2DS) is a rare autosomal dominant genetic disease predisposing to a range of symptoms of which myeloid malignancy and immunodeficiency including recurrent infections are most common. Despite over a decade of research, many challenges remain to improve outcomes for individuals with pathogenic germline GATA2 variations. Lack of identification and appropriate classification of variants, confounded by under-reporting is a significant challenge in our understanding of this syndrome. Considerable disease heterogeneity and small patient cohorts make it challenging to identify commonalities in disease course/outcomes. To help overcome these significant challenges, an international effort to collate and standardise disease-specific clinical and genomics data, accumulating enough data to make evidence-based clinical decisions is required. Here at GATA2, we have collated phenotypic and genetic information extracted from peer-reviewed literature, and an international survey of colleagues, generating standardised clinical resources for G2DS . We have created a registry of GATA2 germline variants which we have expertly-curated and classified according to ACMG/AMP gene-specific criteria. We strive to continue building productive collaborations and make a positive impact with all of our patients.