. Author manuscript; available in PMC: 2020 Apr 1.

Published in final edited form as: Nat Rev Mol Cell Biol. 2019 Jul 2;20(10):625–641. doi: 10.1038/s41580-019-0151-1

Table 2 |.

Histone methylation regulators associated with inherited genetic disorders in humans

Gene	Mutation	Syndrome	Refs
MLL1	Point mutations	Wiedemann–Steiner syndrome	193
MLL2	Point mutations	Dystonia, skeletal abnormalities, intellectual disability	194
MLL3	Point mutations	Kleefstra syndrome, autism spectrum disorder	195
MLL4	Point mutations	Kabuki syndrome	197,198
SETD1B	Point mutations	Seizures, developmental delay, intellectual disability	199
LSD1	Point mutations	Kabuki syndrome	203,204,224
BHC80 (also known as PHF21A)	Deletion^a, translocation	Potocki–Schaeffer	205
GLP (also known as EHMT1)	Translocation, microdeletion^a	Kleefstra syndrome	211,271
KDM5C	Point mutations	Skeletal abnormalities, X-linked intellectual disability	200–202
PHF8	Point mutations	Craniofacial abnormality, X-linked intellectual disability	208–210
EZH2	Point mutations	Weaver syndrome	214
NSD1	Point mutations	Weaver syndrome	215,216
	Deletion^a, point mutation	Sotos syndrome	215,216
	Microinsertion or microdeletion^a	Beckwith–Wiedemann syndrome	217
NSD2	Deletion^a	Wolf–Hirschhorn syndrome	218
PRMT7	Point mutations	Skeletal abnormalities, intellectual disability	222

Haploinsufficient deletions.