Curating the Clinical Genome 2024 ePoster Gallery-ClinGen Glucose-6-phosphate Dehydrogenase (G6PD) Variant Curation Expert Panel Addressing the Need for Genetic Variant Classification in G6PD Deficiency

ClinGen Glucose-6-phosphate Dehydrogenase (G6PD) Variant Curation Expert Panel Addressing the Need for Genetic Variant Classification in G6PD Deficiency

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Pdf Summary

The ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel addresses the need for genetic variant classification in G6PD deficiency, an X-linked genetic condition affecting millions worldwide. The panel, consisting of experts from various fields, aims to curate G6PD variants systematically. Pathogenic variants in the G6PD gene lead to varying levels of G6PD enzyme activity, causing clinical manifestations such as G6PD deficiency and G6PD deficiency with chronic nonspherocytic hemolytic anemia (CNHSA). The panel is refining guidelines based on evidence types and strengths, incorporating codes like PS4 and BS2 to assess severity. Recommendations include separate curation for different diseases. Once finalized, the guidelines will be tested on pilot variants and submitted to ClinVar for classification, crucial for accurate diagnosis and care. The efforts align with functional studies and medication precautions. Acknowledgments and guidelines for applying criteria such as PS4 are included, with support from NIH grant #U24HG009650. For more information, visit the G6PD VCEP webpage.

Keywords

ClinGen Glucose-6-phosphate dehydrogenase

G6PD Variant Curation Expert Panel

genetic variant classification

G6PD deficiency

X-linked genetic condition

G6PD enzyme activity

chronic nonspherocytic hemolytic anemia

ClinVar classification

functional studies

medication precautions

Shruthi Mohan (shruthi_mohan@med.unc.edu)