Description
This panel also covers Monogenic venous thrombosis - please see https://www.genomicsengland.co.uk/information-for-gmc-staff/rare-disease-documents/ for details of the eligibility criteria. 

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:
SERPINC1, PROC, PROS1, SERPIND1, HRG, PLG, THBD, PLAT

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 Kate Downes, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Dr Ernest Turro,  NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Louise Daugherty,  NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Dr Ilenia Simeoni,  NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust 
Dr Karyn Megy, ,  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

115 Entities

109 reviewed, 101 green

List Entity Reviews Mode of inheritance Details
115 Entitiess
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
Tags
Green Green List (high evidence)
HRG
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE Study Tier 1 Gene
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
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)
MPIG6B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Platelet disorder
  • Thrombocytopenia, anemia, and myelofibrosis
Tags
Green Green List (high evidence)
PLAT
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE Study Tier 1 Gene
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Other
Phenotypes
  • Tissue Plasminogen Activator deficiency
  • Thrombophilia, familial, due to decreased release of PLAT 612348
  • Thrombophilia due to decreased release of tissue plasminogen
Tags
Green Green List (high evidence)
PLG
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Plasminogen deficiency
Tags
Green Green List (high evidence)
PROC
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • 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
Tags
Green Green List (high evidence)
PROS1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
Tags
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
  • BRIDGE Study Tier 1 Gene
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Antithrombin deficiency
  • Thrombophilia due to antithrombin III deficiency 613118
  • Antithrombin III Deficiency
  • Antithrombin-III Deficiency
Tags
Green Green List (high evidence)
SERPIND1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE Study Tier 1 Gene
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Heparin cofactor 2 deficiency
  • Thrombophilia due to heparin cofactor II deficiency,612356
  • Thrombophilia due to heparin cofactor II deficiency 612356
Tags
Green Green List (high evidence)
THBD
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BRIDGE Study Tier 1 Gene
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Thrombomodulin deficiency
  • Thrombophilia Due To Thrombomodulin Defect
  • Thrombophilia due to thrombomodulin defect 614486
Tags
Green Green List (high evidence)
ABCG5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Platelet disorder
  • Sitosterolemia and Thrombocytopenia
Tags
Green Green List (high evidence)
ABCG8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Platelet disorder
  • Sitosterolemia and Thrombocytopenia
Tags
Green Green List (high evidence)
ACTN1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Macrothrombocytopenia
Tags
Green Green List (high evidence)
ACVRL1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 2, 600376
  • Bleeding disorder
Tags
Green Green List (high evidence)
ADAMTS13
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Research
Phenotypes
  • Congenital Thrombotic Thrombocytopenic Purpura
  • Schulman-Upshaw Syndrome
  • Familial thrombotic thrombocytopenic purpura
  • TTP
  • Thrombotic disorder
  • Thrombotic thrombocytopenic purpura, familial
Tags
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
Tags
Green Green List (high evidence)
ANO6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Scott syndrome
Tags
Green Green List (high evidence)
AP3B1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Hermansky-Pudlak syndrome
Tags
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
Tags
Green Green List (high evidence)
ARPC1B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Platelet disorder
  • Thrombocytopenia and Immune Deficiency
Tags
Green Green List (high evidence)
BLOC1S3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Hermansky-Pudlak syndrome
Tags
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
Tags
Green Green List (high evidence)
CDC42
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • Takenouchi-Kosaki syndrome, 616737
  • Platelet disorder
Tags
  • de novo
Green Green List (high evidence)
CHST14
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE consortium (NIHRBR-RD)
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome, musculocontractural type
Tags
Green Green List (high evidence)
COL1A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE Study Tier 1 Gene
  • 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
Tags
Green Green List (high evidence)
COL5A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Bleeding disorder
  • Ehlers-Danlos syndrome, classic type
Tags
Green Green List (high evidence)
COL5A2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Bleeding disorder
  • Ehlers-Danlos syndrome, classic type
Tags
Green Green List (high evidence)
CYCS
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Thrombocytopenia 4
Tags
Green Green List (high evidence)
DIAPH1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Macrothrombocytopenia and sensorineural hearing loss
Tags
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
Tags
Green Green List (high evidence)
ENG
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 1, 187300
  • Bleeding disorder
Tags
Green Green List (high evidence)
ETV6
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukaemia
Tags
Green Green List (high evidence)
F10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Factor X deficiency
Tags
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
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Factor XI deficiency
Tags
Green Green List (high evidence)
F12
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Coagulaton disorder
  • Angioedema, hereditary, type 3 (AD)
  • Angioedema, hereditary, type III
  • Factor 12 deficiency (AR)
  • Factor XII deficiency
Tags
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
Tags
Green Green List (high evidence)
F13B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
  • Other
Phenotypes
  • Factor XIII deficiency
  • VENOUS THROMBOSIS, SUSCEPTIBILITY TO
Tags
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
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Prothrombin deficiency
  • Thrombophilia Due To Thrombin Defect
  • Dysprothrombinemia 613679
  • Hypoprothrombinemia 613679
  • Thrombophilia due to thrombin defect 188050
  • Prothrombin-Related Thrombophilia
Tags
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
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
Tags
Green Green List (high evidence)
F7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Factor VII deficiency
Tags
Green Green List (high evidence)
F8
4 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Haemophilia A
Tags
  • gene-therapy-trial
  • non-coding-known-pathogenic
Green Green List (high evidence)
F9
3 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
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
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Leukocyte integrin adhesion deficiency, type III
Tags
Green Green List (high evidence)
FGA
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fibrinogen deficiency
  • Hypodysfibrinogenemia,congenital,616004
  • Dysfibrinogenemia,congenital,616004
  • thrombosis
  • Fibrinogen Dusart
  • dysfibrinogenemia associated with recurrent thrombosis
  • thrombophilia
  • prolonged thrombin clotting
  • Fibrinogen Caracas II
Tags
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
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fibrinogen deficiency
  • Dysfibrinogenemia,congenital,616004
  • dysbetafibrinogenemia with thrombosis
  • Thrombophilia in association with congenital dysfibrinogenemia
Tags
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
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fibrinogen deficiency
  • Dysfibrinogenemia,congenital,616004
  • Dysfibrinogenemia, congenita
  • Hypodysfibrinogenemia
Tags
Green Green List (high evidence)
FLI1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
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
Tags
Green Green List (high evidence)
FLNA
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Macrothrombocytopenia
Tags
Green Green List (high evidence)
GATA1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • X-linked thrombocytopenia with dyserythropoiesis
Tags
Green Green List (high evidence)
GBA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Gaucher disease
  • Gaucher disease, perinatal lethal, 608013
  • Gaucher disease, type I, 230800
  • Gaucher disease, type II,230800
  • Gaucher disease, type III, 230800
  • Gaucher disease, type IIIC, 231005
Tags
Green Green List (high evidence)
GFI1B
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
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)
Tags
Green Green List (high evidence)
GGCX
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Multiple coagulation factor deficiency type 3
Tags
Green Green List (high evidence)
GNE
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Myopathy associated with thrombocytopenia
Tags
Green Green List (high evidence)
GP1BA
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
  • 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)
Tags
Green Green List (high evidence)
GP1BB
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
  • 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)
Tags
Green Green List (high evidence)
GP6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Bleeding diathesis due to glycoprotein VI deficiency
Tags
Green Green List (high evidence)
GP9
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
  • Other
Phenotypes
  • Bernard-Soulier syndrome, type C
  • 231200
  • Bernard-Soulier syndrome
Tags
Green Green List (high evidence)
HOXA11
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Amegakaryocytic thrombocytopenia with radioulnar synostosis
Tags
Green Green List (high evidence)
HPS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Hermansky-Pudlak syndrome
Tags
Green Green List (high evidence)
HPS3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Hermansky-Pudlak syndrome
Tags
Green Green List (high evidence)
HPS4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Hermansky-Pudlak syndrome
Tags
Green Green List (high evidence)
HPS5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Hermansky-Pudlak syndrome
Tags
Green Green List (high evidence)
HPS6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Hermansky-Pudlak syndrome
Tags
Green Green List (high evidence)
ITGA2B
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
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
Tags
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
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
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
Tags
Green Green List (high evidence)
KDSR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Platelet disorder
  • Severe Thrombocytopenia with progression to marrow fibrosis at young age
Tags
Green Green List (high evidence)
KLKB1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Fletcher factor (prekallikrein) deficiency, 612423
  • Fletcher syndrome
  • Coagulation disorder
Tags
Green Green List (high evidence)
KNG1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Coagulaton disorder
  • High Molecular Weight Kininogen Deficiency
Tags
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
Tags
Green Green List (high evidence)
LYST
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Chediak-Higashi syndrome (CHS)
Tags
Green Green List (high evidence)
MCFD2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Combined factor V and VIII deficiency
Tags
Green Green List (high evidence)
MECOM
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • transcription factor and gives the same pathology (thrombocytopenia with bone defects) as HOXA11
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
Tags
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)
Tags
Green Green List (high evidence)
MYH9
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • May-Hegglin and other MYH9 disorders
Tags
Green Green List (high evidence)
NBEA
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Dense granule abnormality
Tags
Green Green List (high evidence)
NBEAL2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Gray platelet syndrome
Tags
Green Green List (high evidence)
P2RY12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • ADP receptor defect
Tags
Green Green List (high evidence)
PLA2G4A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Deficiency of phospholipase A2, group IV A
Tags
Green Green List (high evidence)
PLAU
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Quebec platelet disorder
Tags
Green Green List (high evidence)
PTPN11
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Bleeding disorder
  • LEOPARD syndrome, Leukemia, Juvenile myelomonocytic, somatic
  • Metachondromatosis
  • Noonan syndrome
Tags
Green Green List (high evidence)
RASGRP2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Platelet-type bleeding disorder 18
Tags
Green Green List (high evidence)
RBM8A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Thrombocytopenia-absent radius syndrome (TAR)
Tags
Green Green List (high evidence)
RNU4ATAC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • 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
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Familial platelet disorder with predisposition to acute myelogenous leukemia
Tags
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
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • Radboud University Medical Center, Nijmegen
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
Tags
Green Green List (high evidence)
SERPINF2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Alpha 2 antiplasmin deficiency
Tags
Green Green List (high evidence)
SLC45A2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Oculocutaneous albinism and in some cases with mild bleeding symptoms and platelet dense granule secretion defect
Tags
Green Green List (high evidence)
SLFN14
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
  • Expert Review Green
Phenotypes
  • SLFN14-related thrombocytopenia
  • Platelet disorder
  • Bleeding Disorder, platelet-type, 20
Tags
Green Green List (high evidence)
SMAD4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
  • Bleeding disorder
Tags
Green Green List (high evidence)
SRC
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Thrombocytopenia, Bleeding and myelofibrosis
  • ?Thrombocytopenia 6,616937
  • Platelet disorder
Tags
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
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Familial hemophagocytic lymphohistiocytosis type 5
Tags
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
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Thromboxane A2 receptor defect
Tags
Green Green List (high evidence)
TBXAS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Ghosal syndrome
Tags
Green Green List (high evidence)
THPO
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Thrombocytopenia and thrombocythemia 1
Tags
Green Green List (high evidence)
TUBB1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
  • Expert Review Green
Phenotypes
  • Macrothrombocytopenia, Beta-tubulin 1 related
Tags
Green Green List (high evidence)
VIPAS39
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • ARC syndrome (Arthrogryposis, renal dysfunction, and cholestasis 1)
Tags
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
Tags
Green Green List (high evidence)
VPS33B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • ARC syndrome (Arthrogryposis, renal dysfunction, and cholestasis 2)
Tags
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
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
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
Tags
Green Green List (high evidence)
WAS
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Wiskott-Aldrich syndrome
Tags
  • gene-therapy-trial
Amber Amber List (moderate evidence)
LAT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
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
Tags
Amber Amber List (moderate evidence)
TPM4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Amber
Phenotypes
  • Platelet disorder
  • Macrothrombocytopenia
Tags
Red Red List (low evidence)
APOH
1 review
Not set
Sources
  • Other
Phenotypes
  • risk of thrombosis
  • antiphospholipid syndrome
Tags
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
Tags
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
Tags
Red Red List (low evidence)
IFNAR2
0 reviews
Unknown
Sources
  • Other
Tags
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
Tags
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
Tags
Red Red List (low evidence)
PIGA
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Paroxysmal nocturnal haemoglobinuria, somatic, 300818
Tags
  • somatic
  • treatable
Red Red List (low evidence)
PROCR
0 reviews
Not set
Sources
  • Other
Phenotypes
  • thrombosis
Tags
Red Red List (low evidence)
PROZ
1 review
Not set
Sources
  • Other
Phenotypes
  • Protein Z deficiency
  • thromboembolic complication during pregnancy
Tags
Red Red List (low evidence)
SERPINA10
0 reviews
Not set
Sources
  • Other
Phenotypes
  • ZPI deficiency
  • thrombophilia
Tags
Red Red List (low evidence)
TFPI
1 review
Not set
Sources
  • Other
Phenotypes
  • ?thrombophilia
Tags

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