Gene | Chromosomal position | Syndrome(s) detected |
NSD1-24* | 5q35.2; 5q35.3 | Sotos syndrome |
METTL6-1* | 17p13.3 | Miller-Dieker syndrome, Lissencephaly-1 |
CTNND2-2 | 5p15.2 | Cri-du-Chat syndrome |
CDC45-1 | 22q11.21 | DiGeorge/22q11.2 duplication syndrome |
TWIST1-up | 7p21.1 | Saethre-Chotzen syndrome |
UBE3A-5b | 15q11.2 | Prader-Willi/Angelman syndrome |
PAFAH1B1-11 | 17p13.3 | Miller-Dieker syndrome, Lissencephaly-1 |
ACTRT2-1 | 1p36.32 | 1p36 deletion syndrome |
SNRPN-u5 | 15q11.2 | Prader-Willi/Angelman syndrome |