Table 1.

Molecular Genetic Testing Used in ALPK1-Related Autoinflammatory Disease

Gene 1MethodProportion of Pathogenic Variants 2 Identified by Method
ALPK1 Sequence analysis 3All variants reported to date 4
Gene-targeted deletion/duplication analysis 5None reported to date 6
1.

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

2.

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

3.

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.

4.

Kozycki et al [2022] and data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2020]

5.

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. Exome and genome sequencing may be able to detect deletions/duplications using breakpoint detection or read depth; however, sensitivity can be lower than gene-targeted deletion/duplication analysis.

6.

To date such variants have not been identified as a cause of this disorder and would not be expected given the gain-of-function mechanism of disease causation.

From: ALPK1-Related Autoinflammatory Disease

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