Description
Inherited bleeding and or platelet disorders inclusion criteria :

Diagnosis of a bleeding and/or platelet disorder* of unknown cause before the age of 50 and following haematological consultation, AND family history or consanguineous parents,
OR syndromic features (incl. neurodevelopmental, immunological, nephrology, skeletal, hearing, etc.),
OR early onset severe childhood case of unknown cause
OR deficiency of coagulation factor without causal coding variants in the corresponding gene.

*Platelet disorder is defined as one or more of the following:
Platelet count greater than 400x10e9/L or less than 100x10e9/L
Mean Platelet Volume (MPV) greater than 13 fL and /or macrothrombocytopenia, or MPV less than 7fL
Abnormal platelet morphology, ideally confirmed by high resolution microscopy
Abnormal platelet function test, replicated on an independent sample


Inherited bleeding and or platelet disorders exclusion criteria :

1. Acquired bleeding and /or platelet disorders

2. Cases with platelet counts greater than 400x10e9/L and age less than 30 must be tested and found to be negative for somatic mutations in JAK2 and CALR 

3. Use of prescription or over-the-counter drugs known to be associated with abnormal platelet (function) phenotypes and/or bleeding disorders, including
a. anticoagulant medications
b. aspirin, clopidogrel, dipyridamole, etc. 
c. nonsteroidal anti-inflammatory drugs (incl. COX-2 selective anti-inflammatory drugs) 

4. Patients with evidence of an autoimmune or other systemic condition known to affect
haemostasis and platelet homeostasis, including
a. Autoimmune thrombocytopenia (ITP)
b. Other autoimmune disorders, e.g. SLE

5. Other medical conditions known to be associated with abnormal platelet count and volume and / or abnormal platelet function 
a. Acute viral infection
b. Bone marrow aplasia
c. DIC (Disseminated intravascular coagulation)
d. Hepatic failure 
e. HIV positivity and/or AIDS
f. HUS (Haemolytic-uraemic syndrome)
g. Malignancies, particularly those compromising haematopoiesis
h. Splenomegaly
i. TTP (Thrombotic thrombocytopenia purpura) 
j. Uraemia

Prior genetic testing guidance :

- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Inherited bleeding and or platelet disorders prior genetic testing genes :
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice

Closing statement :
These requirements will be kept under continual review during the main programme and may be subject to change.


This panel includes BRIDGE consortium Tier 1 genes sent by Karyn Megy, WGS Clinical Feedback Lead, NIHR BioResource – Rare Diseases Study (NIHRBR-RD) on 10th March 2016.

The following experts contributed to the Bleeding thrombotic and Platelet Disorders list:
Prof Willem Ouwehand, Director NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Prof Kathleen Freson, Centre for Molecular and Vascular Biology, Leuven, Belgium
Prof Michael Laffan, Imperial College, London
Dr Andrew Mumford, University of Bristol
Dr Keith Gomez, Royal Free Hospital, London
Dr Ernest Turo,  NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Louise Daugherty,  NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust

6 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • BRIDGE consortium (NIHRBR-RD)

    Group: Other
    Workplace: Other

  • Neil Morgan (University of Birmingham)

    Group: GeCIP domain
    Workplace: Research lab

108 genes

102 reviewed, 95 green

List Gene Reviews Mode of inheritance Details
108 genes
Green Green List (high evidence)
FYB1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Thrombocytopenia 3, 273900
  • Platelet disorder
  • Microthrombocytopenia 3
Green Green List (high evidence)
MPIG6B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Platelet disorder
  • Thrombocytopenia, anemia, and myelofibrosis
Green Green List (high evidence)
ABCG5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Platelet disorder
  • Sitosterolemia and Thrombocytopenia
Green Green List (high evidence)
ABCG8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Platelet disorder
  • Sitosterolemia and Thrombocytopenia
Green Green List (high evidence)
ACTN1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Macrothrombocytopenia
Green Green List (high evidence)
ADAMTS13
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital Thrombotic Thrombocytopenic Purpura
  • Schulman-Upshaw Syndrome
  • Familial thrombotic thrombocytopenic purpura
  • TTP
  • Thrombotic disorder
  • Thrombotic thrombocytopenic purpura, familial
Green Green List (high evidence)
ANKRD26
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Thrombocytopenia 2
Green Green List (high evidence)
ANO6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Scott syndrome
Green Green List (high evidence)
AP3B1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Hermansky-Pudlak syndrome
Green Green List (high evidence)
AP3D1
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ?Hermansky-Pudlak syndrome 10
  • Platelet disorder
  • Hermansky-Pudlak syndrome and MR
Green Green List (high evidence)
ARPC1B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Platelet disorder
  • Thrombocytopenia and Immune Deficiency
Green Green List (high evidence)
BLOC1S3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Hermansky-Pudlak syndrome
Green Green List (high evidence)
BLOC1S6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Hermansky-Pudlak syndrome
Green Green List (high evidence)
CHST14
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome, musculocontractural type
Green Green List (high evidence)
COL1A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Bleeding disorder
  • Ehlers-Danlos syndrome
  • Caffey
  • Osteogenesis imperfecta type 1
  • Osteogenesis imperfecta type 2
  • Osteogenesis imperfecta type 3
  • Osteogenesis imperfecta type 4
Green Green List (high evidence)
COL5A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Bleeding disorder
  • Ehlers-Danlos syndrome, classic type
Green Green List (high evidence)
COL5A2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Bleeding disorder
  • Ehlers-Danlos syndrome, classic type
Green Green List (high evidence)
CYCS
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Thrombocytopenia 4
Green Green List (high evidence)
DIAPH1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Macrothrombocytopenia and sensorineural hearing loss
Green Green List (high evidence)
DTNBP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Hermansky-Pudlak syndrome
Green Green List (high evidence)
ETV6
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukaemia
Green Green List (high evidence)
F10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Factor X deficiency
Green Green List (high evidence)
F11
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Factor XI deficiency
Green Green List (high evidence)
F12
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Coagulaton disorder
  • Angioedema, hereditary, type 3 (AD)
  • Angioedema, hereditary, type III
  • Factor 12 deficiency (AR)
  • Factor XII deficiency
Green Green List (high evidence)
F13A1
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Factor XIII deficiency
Green Green List (high evidence)
F13B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Factor XIII deficiency
  • VENOUS THROMBOSIS, SUSCEPTIBILITY TO
Green Green List (high evidence)
F2
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Prothrombin deficiency
  • Thrombophilia Due To Thrombin Defect
  • Dysprothrombinemia 613679
  • Hypoprothrombinemia 613679
  • Thrombophilia due to thrombin defect 188050
  • Prothrombin-Related Thrombophilia
Green Green List (high evidence)
F5
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Factor V deficiency
  • Thrombophilia, susceptibility to, due to factor V Leiden 188055
  • Thrombophilia due to activated protein C resistance 188055
  • Factor V Cambridge Thrombophilia
  • Factor V Leiden Thrombophilia
  • Factor V R2 Mutation Thrombophilia
  • Thrombophilia Due To Activated Protein C Resistance
Green Green List (high evidence)
F7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Factor VII deficiency
Green Green List (high evidence)
F8
4 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Haemophilia A
Tags
  • non-coding-known-pathogenic
  • gene-therapy-trial
Green Green List (high evidence)
F9
3 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Other
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Haemophilia B
  • Thrombophilia, X-linked, due to factor IX defect 300807
Tags
  • gene-therapy-trial
Green Green List (high evidence)
FERMT3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Leukocyte integrin adhesion deficiency, type III
Green Green List (high evidence)
FGA
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Other
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Fibrinogen deficiency
  • Hypodysfibrinogenemia,congenital,616004
  • Dysfibrinogenemia,congenital,616004
  • thrombosis
  • Fibrinogen Dusart
  • dysfibrinogenemia associated with recurrent thrombosis
  • thrombophilia
  • prolonged thrombin clotting
  • Fibrinogen Caracas II
Green Green List (high evidence)
FGB
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Other
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Fibrinogen deficiency
  • Dysfibrinogenemia,congenital,616004
  • dysbetafibrinogenemia with thrombosis
  • Thrombophilia in association with congenital dysfibrinogenemia
Green Green List (high evidence)
FGG
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Other
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Fibrinogen deficiency
  • Dysfibrinogenemia,congenital,616004
  • Dysfibrinogenemia, congenita
  • Hypodysfibrinogenemia
Green Green List (high evidence)
FLI1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Paris-Trousseau thrombocytopenia and Jacobson syndrome (BIALLELIC, autosomal or pseudoautosomal)
  • Bleeding disorder, platelet-type, 21
  • 617443
  • BDPLT21
  • BDPLT21, Storage Pool Disorder and Bleeding (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown)
  • BDPLT21, Paris Trousseau like (BIALLELIC, autosomal or pseudoautosomal)
  • Bleeding disorder, platelet-type, 21
Green Green List (high evidence)
FLNA
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Macrothrombocytopenia
Green Green List (high evidence)
GATA1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • X-linked thrombocytopenia with dyserythropoiesis
Green Green List (high evidence)
GFI1B
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Gray platelet-like syndrome (GPS)
  • Bleeding disorder, platelet-type, 17 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown)
  • 187900
  • Combined alpha-delta platelet storage pool deficiency (BIALLELIC, autosomal or pseudoautosomal)
Green Green List (high evidence)
GGCX
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Multiple coagulation factor deficiency type 3
Green Green List (high evidence)
GNE
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Myopathy associated with thrombocytopenia
Green Green List (high evidence)
GP1BA
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
  • Other
Phenotypes
  • Bernard-Soulier syndrome, type A1 (recessive)
  • 231200
  • Platelet-type von Willebrand disease
  • Bernard-Soulier syndrome
  • Bernard-Soulier syndrome (BIALLELIC, autosomal or pseudoautosomal)
  • Platelet-type von Willebrand disease (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown)
Green Green List (high evidence)
GP1BB
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
  • Other
Phenotypes
  • Bernard-Soulier syndrome, type B (BIALLELIC, autosomal or pseudoautosomal)
  • Giant platelet disorder, isolated (AR)
  • 231200
  • Bernard-Soulier syndrome
  • Macrothrombocytopenia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown)
Green Green List (high evidence)
GP6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Bleeding diathesis due to glycoprotein VI deficiency
Green Green List (high evidence)
GP9
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Other
  • Expert Review Green
Phenotypes
  • Bernard-Soulier syndrome, type C
  • 231200
  • Bernard-Soulier syndrome
Green Green List (high evidence)
HOXA11
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Amegakaryocytic thrombocytopenia with radioulnar synostosis
Green Green List (high evidence)
HPS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Hermansky-Pudlak syndrome
Green Green List (high evidence)
HPS3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Hermansky-Pudlak syndrome
Green Green List (high evidence)
HPS4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Hermansky-Pudlak syndrome
Green Green List (high evidence)
HPS5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Hermansky-Pudlak syndrome
Green Green List (high evidence)
HPS6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Hermansky-Pudlak syndrome
Green Green List (high evidence)
HRG
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Histidine-rich glycoprotein deficiency
  • Thrombophiliadue to elevated HRG
  • Thrombophilia due to HRG deficiency
  • Thrombophilia due to elevated HRG 613116
  • Thrombophilia due to HRG deficiency 613116
Tags
  • missense
Green Green List (high evidence)
ITGA2B
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Glanzmann thrombasthenia (BIALLELIC, autosomal or pseudoautosomal)
  • 273800
  • Bleeding disorder, platelet-type, 16, autosomal dominant (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown )
  • 187800
  • BDPLT16
  • Congenital macrothrombocytopenia
Green Green List (high evidence)
ITGB3
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Glanzmann thrombasthenia (BIALLELIC, autosomal or pseudoautosomal)
  • 273800
  • Bleeding disorder, platelet-type, 16, autosomal dominant (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown)
  • 187800
  • BDPLT16
  • Congenital macrothrombocytopenia
Green Green List (high evidence)
KDSR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Platelet disorder
  • Severe Thrombocytopenia with progression to marrow fibrosis at young age
Green Green List (high evidence)
KNG1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Coagulaton disorder
  • High Molecular Weight Kininogen Deficiency
Green Green List (high evidence)
LMAN1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Combined factor V and VIII deficiency
Green Green List (high evidence)
LYST
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Chediak-Higashi syndrome (CHS)
Green Green List (high evidence)
MCFD2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Combined factor V and VIII deficiency
Green Green List (high evidence)
MECOM
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • transcription factor and gives the same pathology (thrombocytopenia with bone defects) as HOXA11
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
Green Green List (high evidence)
MPL
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Congenital amegakaryocytic thrombocytopenia (CAMT)
Green Green List (high evidence)
MYH9
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • May-Hegglin and other MYH9 disorders
Green Green List (high evidence)
NBEA
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Dense granule abnormality
Green Green List (high evidence)
NBEAL2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Gray platelet syndrome
Green Green List (high evidence)
P2RY12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • ADP receptor defect
Green Green List (high evidence)
PLA2G4A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Deficiency of phospholipase A2, group IV A
Green Green List (high evidence)
PLAT
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Tissue Plasminogen Activator deficiency
  • Thrombophilia, familial, due to decreased release of PLAT 612348
  • Thrombophilia due to decreased release of tissue plasminogen
Green Green List (high evidence)
PLAU
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Quebec platelet disorder
Green Green List (high evidence)
PLG
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Plasminogen deficiency
Green Green List (high evidence)
PROC
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
  • UKGTN
Phenotypes
  • Protein C deficiency
  • Protein C Deficiency
  • Thrombophilia due to protein C deficiency, autosomal dominant 176860
  • Thrombophilia due to protein C deficiency, autosomal recessive 612304
  • Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
  • Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Green Green List (high evidence)
PROS1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Protein S deficiency
  • Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
  • Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
  • Thrombophilia due to protein S deficiency, autosomal dominant 612336
  • Thrombophilia due to protein S deficiency, autosomal recessive 614514
  • Protein S Deficiency
Green Green List (high evidence)
PTPN11
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Bleeding disorder
  • LEOPARD syndrome, Leukemia, Juvenile myelomonocytic, somatic
  • Metachondromatosis
  • Noonan syndrome
Green Green List (high evidence)
RASGRP2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Platelet-type bleeding disorder 18
Green Green List (high evidence)
RBM8A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Thrombocytopenia-absent radius syndrome (TAR)
Green Green List (high evidence)
RNU4ATAC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Platelet disorder
  • Roifman Syndrome with thrombocytopenia and Primary immunodeficiency
Tags
  • locus-type-rna-small-nuclear
Green Green List (high evidence)
RUNX1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Familial platelet disorder with predisposition to acute myelogenous leukemia
Green Green List (high evidence)
SERPINC1
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Antithrombin deficiency
  • Thrombophilia due to antithrombin III deficiency 613118
  • Antithrombin III Deficiency
  • Antithrombin-III Deficiency
Green Green List (high evidence)
SERPIND1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Heparin cofactor 2 deficiency
  • Thrombophilia due to heparin cofactor II deficiency,612356
  • Thrombophilia due to heparin cofactor II deficiency 612356
Green Green List (high evidence)
SERPINE1
3 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Plasminogen activator Inhibitor 1 deficiency
  • Plasminogen Activator Inhibitor-1 Deficiency
  • Thrombophilia due to increased concentration of plasminogen activator inhibitor
  • thrombophilia associated with high levels of plasminogen activator inhibitor
  • Plasminogen activator inhibitor-1 deficiency,613329
  • Transcription of plasminogen activator inhibitor, modulator of
Green Green List (high evidence)
SERPINF2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Alpha 2 antiplasmin deficiency
Green Green List (high evidence)
SLC45A2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Oculocutaneous albinism and in some cases with mild bleeding symptoms and platelet dense granule secretion defect
Green Green List (high evidence)
SLFN14
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • SLFN14-related thrombocytopenia
  • Platelet disorder
  • Bleeding Disorder, platelet-type, 20
Green Green List (high evidence)
STIM1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Stormorken syndrome 185070
Tags
  • missense
Green Green List (high evidence)
STXBP2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Familial hemophagocytic lymphohistiocytosis type 5
Green Green List (high evidence)
TBXA2R
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Thromboxane A2 receptor defect
Green Green List (high evidence)
TBXAS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Ghosal syndrome
Green Green List (high evidence)
THBD
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BRIDGE Study Tier 1 Gene
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
Phenotypes
  • Thrombomodulin deficiency
  • Thrombophilia Due To Thrombomodulin Defect
  • Thrombophilia due to thrombomodulin defect 614486
Green Green List (high evidence)
THPO
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Thrombocytopenia and thrombocythemia 1
Green Green List (high evidence)
TPM4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Platelet disorder
  • Macrothrombocytopenia
Green Green List (high evidence)
TUBB1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Macrothrombocytopenia, Beta-tubulin 1 related
Green Green List (high evidence)
VIPAS39
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • ARC syndrome (Arthrogryposis, renal dysfunction, and cholestasis 1)
Green Green List (high evidence)
VKORC1
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Multiple coagulation factor deficiency type 2
Green Green List (high evidence)
VPS33B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • ARC syndrome (Arthrogryposis, renal dysfunction, and cholestasis 2)
Green Green List (high evidence)
VWF
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • von Willebrand factordisorders
  • von Willebrand factor type 1
  • von Willebrand factor type 2A
  • von Willebrand factor type 2B
  • von Willebrand factor type 2M
  • von Willebrand factor type 2N
  • von Willebrand factor type 3
Green Green List (high evidence)
WAS
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Wiskott-Aldrich syndrome
Tags
  • gene-therapy-trial
Amber Amber List (moderate evidence)
LAT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Expert Review Amber
Phenotypes
  • Immunodeficiency 52, 617514
Tags
  • watchlist
Amber Amber List (moderate evidence)
ORAI1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Amber
Phenotypes
  • Stormorken syndrome
Red Red List (low evidence)
APOH
1 review
Not set
Sources
  • Other
Phenotypes
  • risk of thrombosis
  • antiphospholipid syndrome
Red Red List (low evidence)
COL2A1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • Avascular necrosis of the femoral head
  • feature of hereditary thrombophilia
  • Legg-Calve-Perthes disease
Red Red List (low evidence)
HABP2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Venous thromboembolism, susceptibility to 188050
  • Factor VII Marburg I Variant Thrombophilia
Red Red List (low evidence)
IFNAR2
0 reviews
Unknown
Sources
  • Other
Red Red List (low evidence)
LPA
1 review
Not set
Sources
  • Other
Phenotypes
  • thromboembolism
  • elevated serum Lp(a) levels
  • childhood thrombosis associated with raised Lp(a) levels
Red Red List (low evidence)
MTHFR
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Thromboembolism, susceptibility to 188050
Red Red List (low evidence)
PROCR
0 reviews
Not set
Sources
  • Other
Phenotypes
  • thrombosis
Red Red List (low evidence)
PROZ
1 review
Not set
Sources
  • Other
Phenotypes
  • Protein Z deficiency
  • thromboembolic complication during pregnancy
Red Red List (low evidence)
SERPINA10
0 reviews
Not set
Sources
  • Other
Phenotypes
  • ZPI deficiency
  • thrombophilia
Red Red List (low evidence)
SRC
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • Thrombocytopenia, Bleeding and myelofibrosis
  • ?Thrombocytopenia 6,616937
Red Red List (low evidence)
TFPI
1 review
Not set
Sources
  • Other
Phenotypes
  • ?thrombophilia

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

Major version comments

Downloads

Download lists

Download Version