Version June 2024
| Platelet disorders | Genes | Inheritance pattern |
| Adenosine diphosphate (ADP) receptor defect | P2RY12 | Autosomal recessive (AR) |
| Amegakaryocytic thrombocytopenia with radioulnar synostosis | HOXA11 | Autosomal dominant (AD) |
| Autosomal dominant thrombocytopenia | ANKRD26; CYCS; TUBB1 | All AD |
| Bernard-Soulier syndrome (BSS) | GP1BA; GP1BB; GP9 | All AR |
| Bleeding diathesis due to glycoprotein VI deficiency | GP6 | AR |
| Chediak-Higashi syndrome | LYST | AR |
| Congenital amegakaryocytic thrombocytopenia (CAMT) | MPL | AR |
| Cyclic thrombocytopenia and thrombocythemia 1 | THPO | AD |
| Deficiency of phospholipase A2, group IVA | PLA2G4A | AR |
| Dense granule abnormalities | NBEA | AD |
| Familial platelet disorder with predisposition to acute myeloid leukemia (AML) | RUNX1 | AD |
| Filamin A-related disorders | FLNA | X-linked |
| Ghosal syndrome | TBXAS1 | AR |
| Glanzmann thrombasthenia (GT) | ITGA2B; ITGB3 | AR |
| Gray platelet syndrome | NBEAL2 | AR |
| Hermansky-Pudlak syndrome | HPS1; AP3B1; HPS3; HPS4; HPS5; HPS6; DTNBP1; BLOC1S3 | All AR |
| May-Hegglin and other MYH9-related disorders | MYH9 | AD |
| Paris-Trousseau thrombocytopenia and Jacobsen syndrome | FLI1 | AD |
| Platelet-type von Willebrand disease (VWD) | GP1BA | AD |
| Québec platelet disorder | PLAU | AD |
| Thrombocytopenia absent radius (TAR) syndrome | RBM8A | AR |
| Thromboxane A2 receptor defect | TBXA2R | AR |
| Wiskott-Aldrich syndrome (WAS) | WAS | X-linked |
| X-linked thrombocytopenia with dyserythropoiesis | GATA1 | X-linked |
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