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Gene entry

GBE1

1,4-alpha-glucan branching enzyme 1

Chromosome
3
Cytoband
3p12.2
Variants (rsID)
44

GBE1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p12.2). Its official name is “1,4-alpha-glucan branching enzyme 1”. The reference table lists 44 variants (rsID) for this gene.

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Clinically classified variants

15 reference-table entries with clinical significance.

  • rs139882066Benignsingle nucleotide variantAdult polyglucosan body disease|Glycogen storage disease, type IV|Glycogen storage disease, type IV|Glycogen storage disease IV, classic hepatic
  • rs17019144Benignsingle nucleotide variantAdult polyglucosan body disease|Glycogen storage disease, type IV|Glycogen storage disease IV, classic hepatic|Glycogen storage disease, type IV
  • rs2228389Benignsingle nucleotide variantGlycogen storage disease, type IV|Adult polyglucosan body disease|Glycogen storage disease IV, classic hepatic|Glycogen storage disease, type IV
  • rs28763902Benignsingle nucleotide variantGlycogen storage disease, type IV|Adult polyglucosan body disease|Glycogen storage disease IV, classic hepatic|Glycogen storage disease, type IV
  • rs28763904Benignsingle nucleotide variantAdult polyglucosan body disease|Glycogen storage disease, type IV|Glycogen storage disease IV, classic hepatic|Glycogen storage disease, type IV
  • rs137852891Conflicting interpretationssingle nucleotide variantGlycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form|Glycogen storage disease, type IV|Glycogen storage disease IV, classic hepatic|Glycogen storage disease, type IV
  • rs137852892Conflicting interpretationssingle nucleotide variantGlycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form|Glycogen storage disease, type IV|Glycogen storage disease IV, classic hepatic|Glycogen storage disease, type IV
  • rs137852893Conflicting interpretationssingle nucleotide variantGlycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form|Adult polyglucosan body disease|Glycogen storage disease, type IV
  • rs372821643Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type IV|Glycogen storage disease IV, classic hepatic|Glycogen storage disease, type IV|Adult polyglucosan body disease
  • rs137852887Pathogenicsingle nucleotide variantGlycogen storage disease IV, classic hepatic|Glycogen storage disease, type IV|Glycogen storage disease IV, classic hepatic|Glycogen storage disease, type IV
  • rs192044702Pathogenicsingle nucleotide variantGlycogen storage disease, type IV|GBE1-Related Disorders|Adult polyglucosan body disease|Glycogen storage disease, type IV|Glycogen storage disease, type IV|Glycogen storage disease IV, classic hepatic|Glycogen storage disease
  • rs201958741Pathogenicsingle nucleotide variantAdult polyglucosan body neuropathy|Glycogen storage disease IV, classic hepatic|Glycogen storage disease, type IV|Glycogen storage disease, type IV|Adult polyglucosan body disease|See cases
  • rs80338672Pathogenicsingle nucleotide variantGlycogen storage disease IV, classic hepatic|Glycogen storage disease, type IV|Inborn genetic diseases|Glycogen storage disease IV, classic hepatic|Glycogen storage disease, type IV
  • rs80338673Pathogenicsingle nucleotide variantGlycogen storage disease IV, combined hepatic and myopathic|Glycogen storage disease, type IV|Adult polyglucosan body neuropathy|Glycogen storage disease IV, classic hepatic|Glycogen storage disease, type IV
  • rs185631651Uncertain significancesingle nucleotide variantGlycogen storage disease IV, classic hepatic|Glycogen storage disease, type IV|Glycogen storage disease, type IV

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.