Table 6.
X-linked genes recommended for carrier screening.
| OMIM gene | OMIM gene name | OMIM phenotype | Phenotype |
|---|---|---|---|
| 300371 | ABCD1 | 300100 | Adrenoleukodystrophy (ALD) |
| 300806 | AFF2 | 309548 | Mental retardation, X-linked, associated with fragile site FRAXE |
| 300382 | ARX | 308350 | Developmental and epileptic encephalopathy 1 (DEE1) |
| 300377 | DMD | 300376 | Muscular dystrophy, Becker type (BMD) |
| 310200 | Muscular dystrophy, Duchenne type (DMD) | ||
| 306700 | F8 | 300841 | Hemophilia A (HEMA) |
| 300746 | F9 | 306900 | Hemophilia B (HEMB) |
| 309550 | FMR1 | 300624 | Fragile X syndrome (FXS) |
| 300644 | GLA | 301500 | Fabry disease |
| 308840 | L1CAM | 307000 | Hydrocephalus due to congenital stenosis of aqueduct of Sylvius (HSAS) |
| 300552 | MID1 | 300000 | Opitz GBBB syndrome, type I (GBBB1) |
| 300473 | NR0B1 | 300200 | Adrenal hypoplasia, congenital (AHC) |
| 300461 | OTC | 311250 | Ornithine transcarbamylase deficiency |
| 300401 | PLP1 | 312920 | Spastic paraplegia 2, X-linked (SPG2) |
| 312610 | RPGR | 300029 | Retinitis pigmentosa 3 (RP3; RP) |
| 300455 | Retinitis pigmentosa, X-linked, and sinorespiratory | ||
| 300834 | Infections, with or without deafness | ||
| Macular degeneration, X-linked atrophic | |||
| 300839 | RS1 | 312700 | Retinoschisis 1, X-linked, juvenile (RS1) |
| 300036 | SLC6A8 | 300352 | Cerebral creatine deficiency syndrome 1 (CCDS1) |
OMIM Online Mendelian Inheritance in Man.55