Anemia, nonspherocytic hemolytic, due to G6PD deficiency: genes and variants

Genes linked to Anemia, nonspherocytic hemolytic, due to G6PD deficiency

• G6PD: Glucose-6-phosphate 1-dehydrogenase

  It generates NADPH through the pentose-phosphate pathway, providing red blood cells with the reducing power needed to withstand oxidative stress. Deficiency can trigger neonatal jaundice or acute hemolytic anemia after infections, fava beans, or oxidant drugs.

  182 disease-causing and 108 uncertain variants in G6PD are linked to Anemia, nonspherocytic hemolytic, due to G6PD deficiency.

Weakly linked (only a few uncertain records): CASK.

Known disease-causing variants in Anemia, nonspherocytic hemolytic, due to G6PD deficiency

Showing 60 of 182.

Uncertain variants in Anemia, nonspherocytic hemolytic, due to G6PD deficiency that look disease-causing

Which prediction tools work for Anemia, nonspherocytic hemolytic, due to G6PD deficiency

How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).

• CATVariant: 96 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• REVEL: 95 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• PolyPhen-2: 76 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• SIFT: 76 out of 100
• CADD: 66 out of 100
• AlphaGenome (splicing): 57 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• AlphaGenome (regulatory): 55 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• phyloP: 38 out of 100

Diseases related to Anemia, nonspherocytic hemolytic, due to G6PD deficiency

• Malaria, also linked to G6PD
• G6PD deficiency, also linked to G6PD

Frequently asked questions

Which genes are linked to Anemia, nonspherocytic hemolytic, due to G6PD deficiency?

In CATVariant, Anemia, nonspherocytic hemolytic, due to G6PD deficiency is linked to 1 analyzed protein: G6PD (Glucose-6-phosphate 1-dehydrogenase).

How many genetic variants are linked to Anemia, nonspherocytic hemolytic, due to G6PD deficiency?

306 variants: 182 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 108 are of uncertain significance or have conflicting reports.

Which uncertain variants in Anemia, nonspherocytic hemolytic, due to G6PD deficiency look disease-causing?

4 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example G6PD R227Q, G6PD R136H, G6PD R439H and G6PD C158G. These are leads for expert review, not diagnoses.

Which variant effect predictor works best for Anemia, nonspherocytic hemolytic, due to G6PD deficiency?

Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.77, based on 130 disease-causing and 27 harmless variants).

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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