The patients positive for Episign episignatures were: individual 6 with a molecular diagnosis of Kabuki syndrome made by GS analysis (Kabuki syndrome due to variants in KMT2D or KDM6A), individual 11 with a clinical diagnosis of Coffin-Siris and negative GS and blood RNA-seq results (BAFopathy due to variants in ARID1A, ARID1B, SMARCB1, SMARCA2 or SMARCA4), and individual 13 with a de novo variant in ARID5B (Wolf-Hirschhorn syndrome caused by deletions at 4p16.3). The gene discussed is SMARCA2; the disease is Kabuki syndrome.