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, coagulation and platelet disorders.  For each gene, they selected the pertinent transcript(s); all transcript have been submitted to the Locus Reference Genomic database.

Previous version of the gene list: TG2.6,  TG2.8
Current version of the gene list:TG3.0

 

Gene name Disorder
GFI1B Autosomal recessive storage pool disorder
GP1BB Autosomal dominant thrombocytopenia
GP1BA Autosomal dominant thrombocytopenia
GP1BA Platelet type von Willebrand disease
COL1A1 Ehlers-Danlos syndrome, classic type
COL13A1 Ehlers-Danlos syndrome,vascular type
TPM4 Macrothrombocytopenia
SLFN14 Bleeding disorder, platelet-type, 20
RNU4ATAC Roifman Syndrome
PTPN11 Noonan Syndrome
MECOM Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
KNG1 Kininogen Deficiency
FYB Thrombocytopenia 3
F12 Factor XII deficiency & Type III hereditary angioedema
COL5A2 Ehlers-Danlos syndrome, classic type
COL5A1 Ehlers-Danlos syndrome, classic type
ARPC1B Thrombocytopenia & Immune Deficiency
SLC45A2 Hermansky-Pudlak syndrome
AP3D1 Hermansky-Pudlak syndrome
ABCG8 Sitosterolemia & Macrothrombocytopenia
ADAMTS13 Thrombotic thrombocytopenic purpura, familial
ABCG5 Sitosterolemia & Macrothrombocytopenia
THPO Thrombocytopenia and thrombocythemia 1
WAS Wiskott-Aldrich syndrome
TUBB1 Macrothrombocytopenia, Beta-tubulin 1 related
VIPAS39 ARC syndrome (Arthrogryposis, renal dysfunction, and cholestasis 1)
VKORC1 Multiple coagulation factor deficiency type 2
VPS33B ARC syndrome (Arthrogryposis, renal dysfunction, and cholestasis 2)
VWF von Willebrand disease
THBD Thrombomodulin deficiency
PLG Plasminogen deficiency
PROC Protein C deficiency
PROS1 Protein S deficiency
RASGRP2 Platelet-type bleeding disorder 18
RBM8A Thrombocytopenia-absent radius syndrome (TAR)
RUNX1 Familial platelet disorder with predisposition to acute myelogenous leukemia
SERPINC1 Antithrombin deficiency
SERPIND1 Heparin cofactor 2 deficiency
SERPINE1 Plasminogen activator Inhibitor 1 deficiency
SERPINF2 Alpha 2 antiplasmin deficiency
TBXAS1 Ghosal syndrome
TBXA2R Thromboxane A2 receptor defect
STXBP2 Familial hemophagocytic lymphohistiocytosis type 5
STIM1 Stormorken syndrome
MCFD2 Combined factor V and VIII deficiency
LYST Chediak-Higashi syndrome (CHS)
LMAN1 Combined factor V and VIII deficiency
KDSR Thrombocytopenia and erythrokeraderma
PLAU Quebec platelet disorder
ITGB3 Glanzmann thrombasthenia
ITGA2B Glanzmann thrombasthenia
MPIG6B (C6orf25) Thrombocytopenia and anemia
MPL Congenital amegakaryocytic thrombocytopenia (CAMT)
PLAT Tissue Plasminogen Activator deficiency
PLA2G4A Deficiency of phospholipase A2, group IV A
P2RY12 ADP receptor defect
ORAI1 Stormorken syndrome
NBEAL2 Gray platelet syndrome
NBEA Dense granule abnormality
MYH9 May-Hegglin and other MYH9 disorders
HRG Histidine-rich glycoprotein deficiency
GGCX Multiple coagulation factor deficiency type 3
GFI1B Gray platelet-like syndrome (GPS)
GATA1 X-linked thrombocytopenia with dyserythropoiesis
FLNA Macrothrombocytopenia
GNE Myopathy associated with thrombocytopenia
GP1BA Bernard-Soulier syndrome
GP1BB Bernard-Soulier syndrome
GP6 Bleeding diathesis due to glycoprotein VI deficiency
GP9 Bernard-Soulier syndrome
HOXA11 Amegakaryocytic thrombocytopenia with radioulnar synostosis
HPS1 Hermansky-Pudlak syndrome
HPS3 Hermansky-Pudlak syndrome
HPS4 Hermansky-Pudlak syndrome
HPS5 Hermansky-Pudlak syndrome
HPS6 Hermansky-Pudlak syndrome
FLI1 Paris-Trousseau thrombocytopenia and Jacobsen syndrome
F13A1 Factor XIII deficiency
F11 Factor XI deficiency
F10 Factor X deficiency
ETV6 Thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukaemia
DTNBP1 Hermansky-Pudlak syndrome
DIAPH1 Macrothrombocytopenia and sensorineural hearing loss
F13B Factor XIII deficiency
F2 Prothrombin deficiency
FGG Fibrinogen deficiency
FGB Fibrinogen deficiency
FGA Fibrinogen deficiency
FERMT3 Leukocyte integrin adhesion deficiency, type III
F9 Haemophilia B
F8 Haemophilia A
F7 Factor VII deficiency
F5 Factor V deficiency
CYCS Thrombocytopenia 4
CHST14 Ehlers-Danlos syndrome, musculocontractural type
BLOC1S6 Hermansky-Pudlak syndrome
BLOC1S3 Hermansky-Pudlak syndrome
ACTN1 Macrothrombocytopenia
ANKRD26 Thrombocytopenia 2
ANO6 Scott syndrome
AP3B1 Hermansky-Pudlak syndrome