The 63 BPD genes present in the ThromboGenomics platform
| Coagulation Factor Disorders . | Genes . | Main MOI . | Known (41) . | Suspected (26) . | Uncertain (2) . |
|---|---|---|---|---|---|
| Combined V and VIII deficiency | LMAN1; MCFD2 | AR; AR | — | — | — |
| Factor V deficiency and factor V Leiden | F5 | AR | 4 | 5 | 1 |
| Factor VII deficiency | F7 | AR | 4 | 5 | — |
| Factor X deficiency | F10 | AR | 2 | — | — |
| Factor XI deficiency | F11 | AR | 2 | 1 | 1 |
| Factor XIII deficiency | F13A1; F13B | AR; AR | 2; 0 | 1; 0 | — |
| Fibrinogen deficiency | FGA; FGB; FGG | AD; AR; AR | 7; 1; 2 | 3; 0; 0 | — |
| Fletcher factor deficiency | KLKB1 | AR | — | — | — |
| Hemophilia A | F8 | XR | 5 | 3 | 0 |
| Hemophilia B | F9 | XR | 5 | — | — |
| Multiple coagulation factor deficiency type 1 | GGCX | AR | — | — | — |
| Multiple coagulation factor deficiency type 2 | VKORC1 | AR | — | — | — |
| Plasminogen activator inhibitor 1 deficiency | SERPINE1 | AR | — | — | — |
| Plasminogen deficiency | PLG | AR | — | 1 | — |
| Prothrombin deficiency | F2 | AR | 2 | 4 | — |
| Kininogen deficiency | KNG1 | AR | — | — | — |
| VWD | VWF | AD | 5 | 3 | — |
| Platelet disorders | Genes | Main MOI | Known(110) | Suspected(23) | Uncertain(4) |
| ADP receptor defect | P2RY12 | AR | 1 | — | — |
| Amegakaryocytic thrombocytopenia with radioulnar synostosis | HOXA11 | AD | — | — | — |
| Autosomal dominant thrombocytopenia | ANKRD26; CYCS; TUBB1 | AD; AD; AD | 1; 4; 5 | 0; 0; 1 | 0; 0; 1 |
| BSS | GP1BA; GP1BB; GP9 | AR; AR;AR | 3; 1; 0 | 0; 1; 0 | — |
| Bleeding diathesis due to glycoprotein VI deficiency | GP6 | AR | 1 | — | — |
| Chediak-Higashi syndrome | LYST | AR | — | — | — |
| CAMT | MPL | AR | 5 | — | — |
| 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 AML | RUNX1 | AD | 2 | — | 2 |
| Filamin A-related disorders | FLNA | XR | 1 | — | — |
| Ghosal syndrome | TBXAS1 | AR | — | — | — |
| Glanzmann thrombasthenia | ITGA2B; ITGB3 | AR; AR | 5; 6 | 4; 0 | — |
| Gray platelet syndrome | NBEAL2 | AR | 8 | — | — |
| Hermansky-Pudlak syndrome | HPS1; AP3B1; HPS3; HPS4; HPS5; HPS6; DTNBP1; BLOC1S3 | AR; AR; AR; AR; AR; AR; AR; AR | 1; 0; 2; 0; 0; 2; 1; 0 | 4; 0; 0; 0; 2; 3; 0; 0 | — |
| May-Hegglin and other MYH9-related disorders | MYH9 | AD | 19 | 4 | 1 |
| Paris-Trousseau thrombocytopenia and Jacobson syndrome | FLI1 | AD | — | — | — |
| Platelet-type VWD | GP1BA | AD | 10 | — | — |
| Québec platelet disorder | PLAU | AD | — | 2 | — |
| TAR syndrome | RBM8A | AR | 10 | — | — |
| Thromboxane A2 receptor defect | TBXA2R | AR | 2 | 1 | — |
| WAS | WAS | XR | 16 | 1 | — |
| X-linked thrombocytopenia with dyserythropoiesis | GATA1 | XR | 4 | — | — |
| Thrombotic disorders | Genes | Main MOI | Known(8) | Suspected(7) | Uncertain(3) |
| Antithrombin deficiency | SERPINC1 | AR | 4 | — | 1 |
| Heparin co-factor 2 deficiency | SERPIND1 | AD | — | — | — |
| Histidine-rich glycoprotein deficiency | HRG | AD | — | — | — |
| Protein C deficiency | PROC | AR | 2 | 3 | 1 |
| Protein S deficiency | PROS1 | AR | 2 | 4 | 1 |
| Thrombomodulin deficiency | THBD | AD | — | — | — |
| Tissue plasminogen activator deficiency | PLAT | AD | — | — | — |
| Coagulation Factor Disorders . | Genes . | Main MOI . | Known (41) . | Suspected (26) . | Uncertain (2) . |
|---|---|---|---|---|---|
| Combined V and VIII deficiency | LMAN1; MCFD2 | AR; AR | — | — | — |
| Factor V deficiency and factor V Leiden | F5 | AR | 4 | 5 | 1 |
| Factor VII deficiency | F7 | AR | 4 | 5 | — |
| Factor X deficiency | F10 | AR | 2 | — | — |
| Factor XI deficiency | F11 | AR | 2 | 1 | 1 |
| Factor XIII deficiency | F13A1; F13B | AR; AR | 2; 0 | 1; 0 | — |
| Fibrinogen deficiency | FGA; FGB; FGG | AD; AR; AR | 7; 1; 2 | 3; 0; 0 | — |
| Fletcher factor deficiency | KLKB1 | AR | — | — | — |
| Hemophilia A | F8 | XR | 5 | 3 | 0 |
| Hemophilia B | F9 | XR | 5 | — | — |
| Multiple coagulation factor deficiency type 1 | GGCX | AR | — | — | — |
| Multiple coagulation factor deficiency type 2 | VKORC1 | AR | — | — | — |
| Plasminogen activator inhibitor 1 deficiency | SERPINE1 | AR | — | — | — |
| Plasminogen deficiency | PLG | AR | — | 1 | — |
| Prothrombin deficiency | F2 | AR | 2 | 4 | — |
| Kininogen deficiency | KNG1 | AR | — | — | — |
| VWD | VWF | AD | 5 | 3 | — |
| Platelet disorders | Genes | Main MOI | Known(110) | Suspected(23) | Uncertain(4) |
| ADP receptor defect | P2RY12 | AR | 1 | — | — |
| Amegakaryocytic thrombocytopenia with radioulnar synostosis | HOXA11 | AD | — | — | — |
| Autosomal dominant thrombocytopenia | ANKRD26; CYCS; TUBB1 | AD; AD; AD | 1; 4; 5 | 0; 0; 1 | 0; 0; 1 |
| BSS | GP1BA; GP1BB; GP9 | AR; AR;AR | 3; 1; 0 | 0; 1; 0 | — |
| Bleeding diathesis due to glycoprotein VI deficiency | GP6 | AR | 1 | — | — |
| Chediak-Higashi syndrome | LYST | AR | — | — | — |
| CAMT | MPL | AR | 5 | — | — |
| 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 AML | RUNX1 | AD | 2 | — | 2 |
| Filamin A-related disorders | FLNA | XR | 1 | — | — |
| Ghosal syndrome | TBXAS1 | AR | — | — | — |
| Glanzmann thrombasthenia | ITGA2B; ITGB3 | AR; AR | 5; 6 | 4; 0 | — |
| Gray platelet syndrome | NBEAL2 | AR | 8 | — | — |
| Hermansky-Pudlak syndrome | HPS1; AP3B1; HPS3; HPS4; HPS5; HPS6; DTNBP1; BLOC1S3 | AR; AR; AR; AR; AR; AR; AR; AR | 1; 0; 2; 0; 0; 2; 1; 0 | 4; 0; 0; 0; 2; 3; 0; 0 | — |
| May-Hegglin and other MYH9-related disorders | MYH9 | AD | 19 | 4 | 1 |
| Paris-Trousseau thrombocytopenia and Jacobson syndrome | FLI1 | AD | — | — | — |
| Platelet-type VWD | GP1BA | AD | 10 | — | — |
| Québec platelet disorder | PLAU | AD | — | 2 | — |
| TAR syndrome | RBM8A | AR | 10 | — | — |
| Thromboxane A2 receptor defect | TBXA2R | AR | 2 | 1 | — |
| WAS | WAS | XR | 16 | 1 | — |
| X-linked thrombocytopenia with dyserythropoiesis | GATA1 | XR | 4 | — | — |
| Thrombotic disorders | Genes | Main MOI | Known(8) | Suspected(7) | Uncertain(3) |
| Antithrombin deficiency | SERPINC1 | AR | 4 | — | 1 |
| Heparin co-factor 2 deficiency | SERPIND1 | AD | — | — | — |
| Histidine-rich glycoprotein deficiency | HRG | AD | — | — | — |
| Protein C deficiency | PROC | AR | 2 | 3 | 1 |
| Protein S deficiency | PROS1 | AR | 2 | 4 | 1 |
| Thrombomodulin deficiency | THBD | AD | — | — | — |
| Tissue plasminogen activator deficiency | PLAT | AD | — | — | — |
BPDs targeted by the ThromboGenomics platform are grouped by disorder type and gene. For each gene and disease, the main MOI and the number of individuals in the “known,” “suspected,” and “uncertain” categories found to carry a pathogenic variant by the ThromboGenomics platform are shown, with sub-totals for each set of disorders shown in parentheses. One patient in the “uncertain” group is shown on 2 rows because she was given a digenic molecular diagnosis involving a likely pathogenic variant in SERPINC1 and another in PROC. GP1BA appears twice because variants therein may be implicated in disorders listed on 2 separate rows (BSS and platelet-type VWD). Note that gain-of-function variants in coagulation factor genes F2, F5, FGA, FGB, and FGG may be involved in thrombotic disorders but these are not shown, with the exception of factor V Leiden.
AD, autosomal dominant; ADP, adenosine diphosphate; AML, acute myeloid leukemia; AR, autosomal recessive; BSS, Bernard-Soulier syndrome; CAMT, congenital amegakaryocytic thrombocytopenia; MOI, mode of inheritance; XR, X-linked recessive.