F5

coagulation factor V
OMIM: 612309, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green F5 in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.178	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN 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 with a likely monogenic cause Version 2.5 Latest signed off version: v2.2 (22 Mar 2023)	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 3.10 Latest signed off version: v3.0 (22 Mar 2023)	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 - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.557 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	Not set	Sources Victorian Clinical Genetics Services
Green F5 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Factor V deficiency, 227400
Green F5 in Factor V deficiency Version 1.1 Latest signed off version: v1.0 (14 Sep 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green