SIK1 and familial long QT syndrome: Furthermore, it has been reported that the use of GRCh37 could result in the false detection of variants in clinically significant genes such as KCNE1 (Jervell-Lange-Nielsen syndrome 2, long-QT syndrome 5), NOTCH2 (Alagille syndrome 2; Hajdu-Cheney syndrome), and SIK1 (developmental and epileptic encephalopathy 30) [2,4].