Table 3.

Diseases caused by loss-of-function mutations in PIG and PGAP genes.

step	gene	disease	symptoms	patientsa	Chrb	mutation
1	PIGA	PNHc	haemolysis, thrombosis	many	Xp	Sd in HSCe
		IGDf/MCAHSg	Szh, DD/IDi, Hptj	26		Gk
1	PIGC	IGD	Sz, DD/ID, Hpt	2	1q	G
1	PIGH	IGD	Sz, DD/ID, Hpt	2	14q	G
1	PIGP	IGD	Sz, DD/ID, Hpt	2	21q	G
1	PIGQ	IGD	Sz, DD/ID, Hpt	3	16p	G
1	PIGY	IGD	Sz, DD/ID, Hpt	4	4q	G
2	PIGL	IGD, CHIME syndrome	Sz, DD/ID, Hpt	15	17p	G
4	PIGW	IGD/HPMRSl	Sz, DD/ID, Hpt	3	17q	G
6	PIGM	IGD	Sz, thrombosis	7	1q	G, promotor
7	PIGV	IGD/HPMRS	Sz, DD/ID, Hpt	18	1p	G
8	PIGN	IGD/MCAHS, Fryns syndrome	Sz, DD/ID, Hpt	22	18q	G
9	PIGB	IGD/HPMRS	Sz, DD/ID, Hpt	12	15q	G
10	PIGO	IGD/HPMRS	Sz, DD/ID, Hpt	13	9p	G
11	PIGG	IGD	Sz, DD/ID, Hpt	7	4p	G
13	GPAA1	IGD	Sz, DD/ID, Hpt	10	8q	G
13	PIGS	IGD	Sz, DD/ID, Hpt	7	17p	G
13	PIGT	PIGT-PNH	haemolysis, thrombosis, inflam	4	20q	G + S in HSC
		IGD/MCAHS	Sz, DD/ID, Hpt	28		G
13	PIGU	IGD	Sz, DD/ID, Hpt	5	20q	G
14	PGAP1	IGD	Sz, DD/ID, Hpt	8	2q	G
17	PGAP3	IGD/HPMRS	Sz, DD/ID, Hpt	45	17q	G
18	PGAP2	IGD/HPMRS	Sz, DD/ID, Hpt	23	11p	G

^aNumbers of published patients as of December 2019.

^bChr, chromosome location.

^cPNH, paroxysmal nocturnal haemoglobinuria.

^dS, somatic mutations.

^eHSC, haematopoietic stem cell.

^fIGD, inherited GPI deficiency.

^gMCAHS, multiple congenital anomalies-hypotonia-seizures syndrome.

^hSz, seizures.

ⁱDD/ID, developmental delay/intellectual disability.

^jHpt, hypotonia.

^kG, germline mutations.

^lHPMRS, hyperphosphatasia mental retardation syndrome/Mabry syndrome.

^minfla, inflammation.