Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes

Table 2 Genes in the GPI biosynthetic pathway anchoring process, Transamidase+Remodeling stage. Abbreviations as in Table 1

Gene name (Entrez ID)	# Patients curated	Disease Association	Inheritance
GPAA1 (8733)	10	OMIM:617810 GPI biosynthesis defect 15	AR
MPPE1 (65258)	0	n/a
PGAP1 (80055)	7	OMIM: 615802 Mental retardation, autosomal recessive 42	AR
PGAP2 (27315)	10	OMIM: 614207 HPMRS 3	AR
PGAP3 (93210)	22	OMIM:615716 HPMRS 4	AR
PIGK (10026)	0	n/a
PIGS (94005)	0	OMIM:618143 GPI biosynthesis defect-18	AR
PIGT (51604)	10	OMIM:615399, Paroxysmal nocturnal hemoglobinuria 2, (PNH 2); MIM: 615398 MCAHS 3	AD/AR
PIGU (128869)	0	n/a

ISSN: 1750-1172