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 small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

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

Note: Although almost all variants associated with GBE1-APBD to date are detectable by sequence analysis, the second most common variant, c.2053-5289_2053-5297delinsTGTTTTTTACATGACAGGT, is deep intronic and is unlikely to be detected by typical exon-targeted and splice junction-targeted sequencing assays [Akman et al 2015].

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.

Intragenic deletions, such as those reported by Bruno et al [2004], Tay et al [2004], Raju et al [2008], and Li et al [2012] have been associated with glycogen storage disease type IV (see Genetically Related Disorders).