{{Rsnum
|rsid=2172397
|Gene=GBE1
|Chromosome=3
|position=81594016
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.0124
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 11.0 | 89.0
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 7.7 | 92.3
| ASW | 0.0 | 7.1 | 92.9
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 1.0 | 99.0
| GIH | 0.0 | 13.3 | 86.7
| LWK | 0.9 | 1.9 | 97.2
| MEX | 0.0 | 5.6 | 94.4
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 6.2 | 93.8
| HapMapRevision=28
}}{{Venter SNP
|rsid=2172397
|allele=C
|frequency=0.983
|uid=1103656149810
|type=homozygous_SNP
|hugo=GBE1
|ensembl gene=ENSG00000114480
|ensembl transcript=ENST00000264326
|sift=TOLERATED
|disease=Defects in GBE1 are the cause of adult polyglucosan body disease (APBD) (MIM:263570). APBD is a late-onset, slowly progressive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of APBD is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes.
}}

{{GET Evidence
|gene=GBE1
|aa_change=Ile334Val
|aa_change_short=I334V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2172397
|overall_frequency_n=9284
|overall_frequency_d=9470
|overall_frequency=0.980359
|n_genomes=54
|n_genomes_annotated=0
|n_haplomes=107
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-4
|autoscore=3
|n_web_uneval=2
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}