Molecular Vision: Li, Mol Vis 2017; 23:1048-1080. Table 5

Table 5. Genes suggested from exome sequencing studies.

Inheritance	Locus	Region	Gene	Mutation	Reference
AD	MYP21	1p22.2	ZNF644	p.S672G	(Shi et al., 2011; Jiang et al., 2014)
AD	MYP21	1p22.2	ZNF644	p.R680G	(Shi et al., 2011)
AD	MYP21	1p22.2	ZNF644	p.C699Y	(Shi et al., 2011)
AD	MYP21	1p22.2	ZNF644	p.T242M	(Tran-Viet et al., 2012)
AD	MYP21	1p22.2	ZNF644	p.E274V	(Tran-Viet et al., 2012)
AD	MYP21	1p22.2	ZNF644	p.T401A	(Xiang et al., 2014)
AD	MYP21	1p22.2	ZNF644	p.E1278G	(Xiang et al., 2014)
AD	MYP21	1p22.2	ZNF644	p.R683T	(Jiang et al., 2014)
AD	MYP21	1p22.2	ZNF644	p.D851H	(Jiang et al., 2014)
AD	MYP25	5q31.1	P4HA2	p.E291K	(Guo et al., 2015)
AD	MYP25	5q31.1	P4HA2	p.K443*	(Guo et al., 2015)
AD	MYP25	5q31.1	P4HA2	p.Q140R	(Guo et al., 2015)
AD	MYP25	5q31.1	P4HA2	p.I150V	(Guo et al., 2015)
AD	MYP25	5q31.1	P4HA2	p.R451Gfs*8	(Guo et al., 2015)
AD	MYP24	12q13.3	SLC39A5	p.Y47*	(Guo et al., 2015)
AD	MYP24	12q13.3	SLC39A5	p.M304T	(Guo et al., 2015)
AD	MYP24	12q13.3	SLC39A5	p.G413A	(Jiang et al., 2014)
AD	Unknown	22q13.33	SCO2	p.R112W	(Jiang et al., 2014)
AD	Unknown	22q13.33	SCO2	p.R120W	(Jiang et al., 2014)
AD	Unknown	22q13.33	SCO2	p.Q53*	(Yanovitch et al., 2013)
AD	Unknown	22q13.33	SCO2	p.R114H	(Yanovitch et al., 2013)
AD	Unknown	22q13.33	SCO2	p.E140K	(Yanovitch et al., 2013)
AD	Unknown	22q13.33	SCO2	p.A259V	(Yanovitch et al., 2013)
AR	Unknown	3q28	LEPREL1	p.G508V	(Mordechai et al., 2011)
AR	Unknown	3q28	LEPREL1	p.Q5*	(Guo et al., 2014)
AR	MYP23	4p16.3	LRPAP1	p.N202Tfs∗8	(Aldahmesh et al., 2013)
AR	MYP23	4p16.3	LRPAP1	p.I288Rfs∗118	(Aldahmesh et al., 2013)
AR	MYP23	4p16.3	LRPAP1	p.Q67Sfs*8	(Jiang et al., 2014)
AR	MYP23	15q25.1	CTSH	p.L162Pfs*66	(Aldahmesh et al., 2013)
X-linked	MYP1	Xq28	OPN1LW	LVAVA haplotype	(Li et al., 2015)
X-linked	Unknown	Xq13.1	ARR3	p.L80P	(Xiao et al., 2016)
X-linked	Unknown	Xq13.1	ARR3	p.R100*	(Xiao et al., 2016)
X-linked	Unknown	Xq13.1	ARR3	p.A298D	(Xiao et al., 2016)
De Novo	Unknown	19p13.3	BSG	p.G297S	(Jin et al., 2017)
De Novo	Unknown	19p13.3	BSG	p.P221S	(Jin et al., 2017)
De Novo	Unknown	19p13.3	BSG	p.Q69X	(Jin et al., 2017)
De Novo	Unknown	19p13.3	BSG	pc.415+1G>A	(Jin et al., 2017)