F5

coagulation factor V
OMIM: 612309, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green F5 in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.164

review 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 F5 in Thrombophilia


Version 1.20
Latest signed off version: v1.2 (3 Mar 2020)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • 227400 Factor V deficiency
  • 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}
  • 188055 Thrombophilia due to activated protein C resistance

Green F5 in Bleeding and platelet disorders


Version 1.31
Latest signed off version: v1.2 (3 Mar 2020)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • 227400 Factor V deficiency, 188055 Thrombophilia due to activated protein C resistance, 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}
  • 227400 Factor V deficiency
  • 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}
  • 188055 Thrombophilia due to activated protein C resistance

Red F5 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1371
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review Not set
    Sources
    • Victorian Clinical Genetics Services

    Green F5 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Factor V deficiency, 227400