See Table A. Genes and Databases for chromosome locus and protein.

See Molecular Genetics for information on variants detected in this gene.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include missense, nonsense, and splice site variants and small intragenic deletions/insertions; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

Due to the presence of a highly homologous pseudogene (GBAP1), PCR-based methods must be designed to differentiate GBA1 from the pseudogene.

Data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2020]

Complex disease-causing alleles derived from GBA1-GBAP1 recombinant events, such as the common RecNciI allele, may be detected by sequence analysis.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods that rely on hybridization, such as multiplex ligation-dependent probe amplification (MLPA) or gene-targeted microarray designed to detect single-exon deletions or duplications, may not detect deletions or duplications in regions of high homology between GBA1 and GBAP1. Methods such as quantitative PCR, long-range PCR, and Southern blotting may be used to detect deletion/duplication of GBA1.

Deletions of 3,925 bp including exons 1-2 and the 5' UTR (a region unique to GBA1) and whole-gene deletions have been reported [Beutler & Gelbart 1994, Cozar et al 2011].