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
Current version of the gene list: TG2.8 To be supplied

 

Gene name Disorder
ENG Primary Pulmonary Hypertension (Familial)
SMAD4 Susceptibility to pulmonary hypertension
TREX1 Vasculopathy, retinal, with cerebral leukodystrophy; RVCL
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 type 2 and 3
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
SMAD9 Primary Pulmonary Hypertension (Familial)
SCN1A Migraine, familial hemiplegic, 3
SMAD1 Susceptibility to pulmonary hypertension
SMAD4 hereditary hemorrhagic telangiectasia syndrome
ITM2B Cerebral amyloid angiopathy, ITM2B-related 1; Cerebral amyloid angiopathy, ITM2B-related 2
MCFD2 Combined factor V and VIII deficiency
LYST Chediak-Higashi syndrome (CHS)
LMAN1 Combined factor V and VIII deficiency
KDSR Thrombocytopenia and erythrokeraderma
KCNK3 Pulmonary hypertension, primary, 4 (PPH4)
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
NOTCH3 Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts, And Leukoencephalopathy (CADASIL)
NBEAL2 Gray platelet syndrome
NBEA Dense granule abnormality
MYH9 May-Hegglin and other MYH9 disorders
HTRA1 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)
HRG Histidine-rich glycoprotein deficiency
GLA Fabry disease
GGCX Multiple coagulation factor deficiency type 3
GFI1B Gray platelet-like syndrome (GPS)
GDF2 hereditary hemorrhagic telangiectasia syndrome
GATA1 X-linked thrombocytopenia with dyserythropoiesis
FOXC2 Lymphedema-distichiasis syndrome
FOXC1 Axenfeld-Rieger syndrome, type 3
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 Jacobson syndrome
F13A1 Factor XIII deficiency
F11 Factor XI deficiency
F10 Factor X deficiency
ETV6 Thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukaemia
ENG Telangiectasia, hereditary hemorrhagic, type 1
EIF2AK4 Pulmonary venoocclusive disease 2
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
CACNA1A Migraine, familial hemiplegic, 1
CAV1 Pulmonary hypertension, primary, 3 (PPH3)
CHST14 Ehlers-Danlos syndrome, musculocontractural type
COL1A1 Ehlers–Danlos syndrome
COL3A1 Ehlers-Danlos syndrome, type IV
COL4A1 Brain small vessel disease with or without ocular anomalies
COL4A2 Hemorrhage, intracerebral, susceptibility to ICH
CST3 Cerebral amyloid angiopathy, CST3-related
BMPR2 Pulmonary hypertension
BLOC1S6 Hermansky-Pudlak syndrome
BLOC1S3 Hermansky-Pudlak syndrome
ABCC6 Pseudoxanthoma elasticum
ACTN1 Macrothrombocytopenia
ACVRL1 Telangiectasia, hereditary hemorrhagic, type 2
ANKRD26 Thrombocytopenia 2
ANO6 Scott syndrome
AP3B1 Hermansky-Pudlak syndrome
APP Cerebral amyloid angiopathy, APP-related
ATP1A2 Migraine, familial hemiplegic, 2