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