ArticleAmerican journal of human genetics2023
Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants.
Article in American journal of human genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Glucose-6-phosphate dehydrogenase deficiency as a cause for nonimmune hydrops fetalis and severe fetal anemia: A systematic review.Molecular genetics & genomic medicine · 2024Pooled it
- Evidence for G6PD variant classification from multiplexed functional assays.Genome biology · 2026Article
- The emerging role of disulfidptosis in metabolic synergistic death and cancer immunotherapy.Oncogenesis · 2026Review
- Monogenic Syndromes as a Cause of Adverse Drug Reactions in the Russian Population.International journal of molecular sciences · 2026Article
- Resolving haplotypes of the glucose-6-phosphate dehydrogenase gene using long-range polymerase chain reaction and Oxford Nanopore sequencing.Biology methods & protocols · 2026Article
- Screening of glucose-6-phosphate dehydrogenase deficiency in a cohort of 215,137 newborns: an epidemiological and pathogenic variant spectrum study in Yueyang, China.Frontiers in genetics · 2026Article
- Evidence forbioRxiv : the preprint server for biology · 2025Article
- Undiagnosed G6PD Deficiency in Black and Asian Individuals Is Prevalent and Contributes to Health Inequalities in Type 2 Diabetes Diagnosis and Complications.Diabetes care · 2025Article
- Opportunities and Challenges of Population Pharmacogenomics.Annals of human genetics · 2025Review
- A live bacteria enzyme assay for identification of human disease mutations and drug screening.Nature biomedical engineering · 2025Article
- Integrated Phenotypic and Genotypic Approaches for Accurate Diagnosis of G6PD Deficiency: Implications for Drug Safety in Thailand.Pharmacology research & perspectives · 2025Article
- Improved genetic screening with zygosity detection through multiplex high-resolution melting curve analysis and biochemical characterisation for G6PD deficiency.Tropical medicine & international health : TM & IH · 2025Article
- Enhancing NADPH to restore redox homeostasis and lysosomal function in G6PD-deficient microglia.Heliyon · 2025Article
- Characteristics of glucose-6-phosphate dehydrogenase mutations in newborns with deficiency from 2021 to 2022 in the Heze area of China.Frontiers in immunology · 2025Article
- Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.American journal of human genetics · 2024Article
- Functional analysis of G6PD variants associated with low G6PD activity in the All of Us Research Program.Genetics · 2024Article
- Article
- New WHO classification of genetic variants causing G6PD deficiency.Bulletin of the World Health Organization · 2024Article
- Functional Analysis of G6PD Variants Associated With Low G6PD Activity in the All of Us Research Program.medRxiv : the preprint server for health sciences · 2024Article
- Genetic analysis and molecular basis of G6PD deficiency among malaria patients in Thailand: implications for safe use of 8-aminoquinolines.Malaria journal · 2024Article
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3 authors at 2 institutions in 1 country.
Funding
Abstract
Glucose-6-phosphate dehydrogenase (G6PD) deficiency affects over 500 million individuals who can experience anemia in response to oxidative stressors such as certain foods and drugs. Recently, the World Health Organization (WHO) called for revisiting G6PD variant classification as a priority to implement genetic medicine in low- and middle-income countries. Toward this goal, we sought to collect reports of G6PD variants and provide interpretations. We identified 1,341 G6PD variants in population and clinical databases. Using the ACMG standards and guidelines for the interpretation of sequence variants, we provided interpretations for 268 variants, including 186 variants that were not reported or of uncertain significance in ClinVar, bringing the total number of variants with non-conflicting interpretations to 400. For 414 variants with functional or clinical data, we analyzed associations between activity, stability, and current classification systems, including the new 2022 WHO classification. We corroborated known challenges with classification systems, including phenotypic variation, emphasizing the importance of comparing variant effects across individuals and studies. Biobank data made available by All of Us illustrate the benefit of large-scale sequencing and phenotyping by adding additional support connecting variants to G6PD-deficient anemia. By leveraging available data and interpretation guidelines, we created a repository for information on G6PD variants and nearly doubled the number of variants with clinical interpretations. These tools enable better interpretation of G6PD variants for the implementation of genetic medicine.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.