GPI Chromosome 19

Glucose-6-phosphate isomerase
37 variants 37 Health Risk

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What This Gene Does
This gene encodes a member of the glucose phosphate isomerase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In the cytoplasm, the gene product functions as a glycolytic enzyme (glucose-6-phosphate isomerase) that interconverts glucose-6-phosphate and fructose-6-phosphate. Extracellularly, the encoded protein (also referred to as neuroleukin) functions as a neurotrophic factor that promotes survival of skeletal motor neurons and sensory neurons, and as a lymphokine that induces immunoglobulin secretion. The encoded protein is also referred to as autocrine motility factor based on an additional function as a tumor-secreted cytokine and angiogenic factor. Defects in this gene are the cause of nonspherocytic hemolytic anemia and a severe enzyme deficiency can be associated with hydrops fetalis, immediate neonatal death and neurological impairment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
Associated Conditions (9)
Hemolytic anemia due to glucophosphate isomerase deficiency
Inborn genetic diseases
GPI-related disorder
Ovarian serous cystadenocarcinoma
Uterine carcinosarcoma
Hereditary spherocytosis
Thyroid cancer
nonmedullary
1
Key Variants
RS137853584
Conflicting classifications of pathogenicity
Hemolytic anemia due to glucophosphate isomerase deficiency, Inborn genetic diseases, Hemolytic anemia due to glucophosphate isomerase deficiency
Health Risk
RS139853344
Conflicting classifications of pathogenicity
Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
Health Risk
RS143733383
Conflicting classifications of pathogenicity
Hemolytic anemia due to glucophosphate isomerase deficiency, Inborn genetic diseases, GPI-related disorder
Health Risk
RS143827313
Conflicting classifications of pathogenicity
Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
Health Risk
RS149348999
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hemolytic anemia due to glucophosphate isomerase deficiency, Inborn genetic diseases
Health Risk
RS191051353
Conflicting classifications of pathogenicity
Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
Health Risk
RS199742342
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hemolytic anemia due to glucophosphate isomerase deficiency, Ovarian serous cystadenocarcinoma
Health Risk
RS369778460
Conflicting classifications of pathogenicity
Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
Health Risk
RS373311425
Conflicting classifications of pathogenicity
Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
Health Risk
RS61754634
Conflicting classifications of pathogenicity
Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
Health Risk
RS774225651
Conflicting classifications of pathogenicity
Health Risk
RS2145419704
Likely pathogenic
Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
Health Risk
All Variants (37)
RSID Category Clinical Significance Conditions
RS137853584 Health Risk Conflicting classifications of pathogenicity Hemolytic anemia due to glucophosphate isomerase deficiency, Inborn genetic diseases, Hemolytic anemia due to glucophosphate isomerase deficiency
RS139853344 Health Risk Conflicting classifications of pathogenicity Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS143733383 Health Risk Conflicting classifications of pathogenicity Hemolytic anemia due to glucophosphate isomerase deficiency, Inborn genetic diseases, GPI-related disorder
RS143827313 Health Risk Conflicting classifications of pathogenicity Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS149348999 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hemolytic anemia due to glucophosphate isomerase deficiency, Inborn genetic diseases
RS191051353 Health Risk Conflicting classifications of pathogenicity Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS199742342 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hemolytic anemia due to glucophosphate isomerase deficiency, Ovarian serous cystadenocarcinoma
RS369778460 Health Risk Conflicting classifications of pathogenicity Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS373311425 Health Risk Conflicting classifications of pathogenicity Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS61754634 Health Risk Conflicting classifications of pathogenicity Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS774225651 Health Risk Conflicting classifications of pathogenicity
RS2145419704 Health Risk Likely pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS2145429665 Health Risk Likely pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS2513787109 Health Risk Likely pathogenic Hereditary spherocytosis, Hereditary spherocytosis
RS2513825652 Health Risk Likely pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS2513880015 Health Risk Likely pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS34306618 Health Risk Likely pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS752119540 Health Risk Likely pathogenic GPI-related disorder, GPI-related disorder
RS771983073 Health Risk Likely pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS1250029517 Health Risk Pathogenic
RS1364382189 Health Risk Pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS137853585 Health Risk Pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS137853586 Health Risk Pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS137853587 Health Risk Pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS148811525 Health Risk Pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS2074944872 Health Risk Pathogenic
RS2074944986 Health Risk Pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS267606851 Health Risk Pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Thyroid cancer, nonmedullary
RS267606852 Health Risk Pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS267606853 Health Risk Pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS757341382 Health Risk Pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS769026153 Health Risk Pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS781245249 Health Risk Pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS1238884216 Health Risk Pathogenic/Likely pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS137853583 Health Risk Pathogenic/Likely pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS758132799 Health Risk Pathogenic/Likely pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS774419705 Health Risk Pathogenic/Likely pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
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