Gene and Disorder list

Members of the Scientific and Standardisation Committee (SSC) for Genomics in Thrombosis and Hemostasis of the International Society on Thrombosis and Haemostasis have applied their expertise to compile the panel of genes for inherited bleeding, thrombotic and platelet disorders.  For each gene, they selected the pertinent transcript(s); all transcript have been submitted to the Locus Reference Genomic database.

Previous versions of the gene list: TG1.0


Gene symbol Diseases
P2RY12 ADP receptor defect
SERPINF2 Alpha 2 anti-plasmin deficiency
HOXA11 Amegakaryocytic thrombocytopenia with radioulnar synostosis
SERPINC1 Anti-thrombin deficiency
VIPAS39 ARC syndrome
VPS33B ARC syndrome
ANKRD26 Autosomal dominant thrombocytopenia 2
CYCS Autosomal dominant thrombocytopenia 4
GP1BA Bernard-Soulier syndrome
GP1BB Bernard-Soulier syndrome
GP9 Bernard-Soulier syndrome
GP6 Bleeding diathesis due to glycoprotein VI deficiency
LYST Chediak-Higashi syndrome
LMAN1 Combined V and VIII deficiency
MCFD2 Combined V and VIII deficiency
MPL Congenital amegakaryocytic thrombocytopenia (CAMT)
PLA2G4A Deficiency of phospholipase A2, group IVA
F5 Factor V deficiency
F7 Factor VII deficiency
F10 Factor X deficiency
F11 Factor XI deficiency
F13A1 Factor XIII deficiency
F13B Factor XIII deficiency
STXBP2 Familial haemophagocytic lymphohistiocytosis, type 5
RUNX1 Familial platelet disorder with predisposition to AML
FGA Fibrinogen deficiency
FGB Fibrinogen deficiency
FGG Fibrinogen deficiency
TBXAS1 Ghosal syndrome
ITGA2B Glanzmann thrombasthenia
ITGB3 Glanzmann thrombasthenia
NBEAL2 Gray platelet syndrome
GFI1B Gray platelet-like syndrome
F8 Haemophilia A
F9 Haemophilia B
SERPIND1 Heparin co-factor 2 deficiency
AP3B1 Hermansky-Pudlak syndrome
BLOC1S3 Hermansky-Pudlak syndrome
BLOC1S6 Hermansky-Pudlak syndrome
DTNBP1 Hermansky-Pudlak syndrome
HPS1 Hermansky-Pudlak syndrome
HPS3 Hermansky-Pudlak syndrome
HPS4 Hermansky-Pudlak syndrome
HPS5 Hermansky-Pudlak syndrome
HPS6 Hermansky-Pudlak syndrome
HRG Histidine-rich glycoprotein deficiency
FLI1 Jacobson syndrome
FERMT3 Leukocyte integrin adhesion deficiency, type III
ACTN1 Macrothrombocytopenia
FLNA Macrothrombocytopenia
MYH9 May-Hegglin and other MYH9 disorders
GGCX Multiple Coagulation Factor Deficiency Type 1
VKORC1 Multiple Coagulation Factor Deficiency Type 2
FLI1 Paris-Trousseau thrombocytopenia
SERPINE1 Plasminogen Activator Inhibitor 1 deficiency
RASGRP2 Platelet-type bleeding disorder 18
GP1BA Platelet-type von Willebrand disease
PROC Protein C deficiency
PROS1 Protein S deficiency
F2 Prothrombin deficiency
PLAU Quebec platelet disorder
ANO6 Scott syndrome
ORAI1 Stormorken syndrome
STIM1 Stormorken syndrome
RBM8A Thrombocytopenia Absent Radius (TAR) syndrome
ETV6 Thrombocytopenia and susceptibility to cancer
THPO Thrombocytopenia and thrombocythemia 1
THBD Thrombomodulin deficiency
TBXA2R Thromboxane A2 receptor defect
PLAT Tissue Plasminogen Activator deficiency
VWF von Willebrand disease type 1
VWF von Willebrand disease type 2
VWF von Willebrand disease type 3
WAS Wiskott-Aldrich syndrome
GATA1 X-linked thrombocytopenia with dyserythropoiesis
GNE Myopathy associated with thrombocytopenia
PLG Plasminogen deficiency
NBEA Dense granule abnormality