Table 3.

Coffin-Siris Syndrome: Gene-Specific Laboratory Considerations

Gene 1Special Consideration
ARID1A Many pathogenic variants appear to be mosaic, a finding that should be taken into account when analyzing sequence data.
ARID1B Alternatively spliced transcript variants encoding different isoforms have been described.
SMARCA4 Multiple transcript variants encoding different isoforms have been found for this gene.
SOX11 Pathogenic variants in SOX11 include partial- or whole-gene deletions or de novo missense variants in the HMG-box DNA-binding domain. 3

From: Coffin-Siris Syndrome

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