Table 1.
GPI biosynthesis genes and their associated disease caused by germline variants
| Gene | Gene OMIM # | Disease | Disease OMIM # | Affected individuals |
|---|---|---|---|---|
| GPAA1 | 603048 | Glycosylphosphatidylinositol biosynthesis defect 15 (GPIBD15) | 617810 | 10 |
| PGAP1 | 611655 | Mental retardation, autosomal recessive 42 (MRT42) | 615802 | 11 |
| PGAP2 | 615187 | Hyperphosphatasia with mental retardation syndrome 4 (HPMRS4) | 614207 | 17 |
| PGAP3 | 611801 | Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) | 615716 | 48 |
| PIGA | 311770 | Multiple congenital anomalies‐hypotonia‐seizures syndrome 2 (MCAHS2) | 300868 | 43 |
| PIGC | 601730 | Glycosylphosphatidylinositol biosynthesis defect 16 (GPIBD16) | 617816 | 3 |
| PIGG | 616918 | Mental retardation, autosomal recessive 53 | 616917 | 8 |
| PIGH | 600154 | Glycosylphosphatidylinositol biosynthesis defect 17 | 618010 | 4 |
| PIGL | 605947 | CHIME syndrome (Zunich neuroectodermal syndrome) | 280000 | 15 |
| PIGM | 610273 | Glycosylphosphatidylinositol biosynthesis defect 1 (GPIBD1) | 610293 | 4 |
| PIGN | 606097 | Multiple congenital anomalies, hypotonia, seizures syndrome 1 (MCAHS1), Fryns syndrome | 614080, 229850 | 33 |
| PIGO | 614730 | Hyperphosphatasia with mental retardation syndrome 2 (HPMRS2) | 614749 | 17 |
| PIGP | 605938 | Epileptic encephalopathy, early infantile, 55 (EIEE55) | 617599 | 2 |
| PIGQ | 605754 | Epileptic encephalopathy, early infantile, EIEE | None | 2 |
| PIGS | 610271 | Glycosylphosphatidylinositol biosynthesis defect 18 | 618143 | 6 |
| PIGT | 610272 | Multiple congenital anomalies‐hypotonia‐seizures syndrome 3 (MCAHS3) | 615399, 615398 | 18 |
| PIGV | 610274 | Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1) | 239300 | 27 |
| PIGW | 610275 | Hyperphosphatasia with mental retardation syndrome 5 (HPMRS5) | 616025 | 4 |
| PIGY | 610662 | Hyperphosphatasia with mental retardation syndrome 6 (HPMRS6) | 616809 | 4 |