Thrombophilia with a likely monogenic cause
Gene: F3
NONE ON ISTH LIST, so suggest red; we presently screen for PROZ, PROCR and havent found anything.Created: 28 May 2019, 1:11 p.m.
Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating RedCreated: 28 May 2019, 2:08 p.m.
Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F3; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: Tissue factor deficiency (Factor III); No OMIM number; PMID(s): none submittedCreated: 7 Feb 2019, 2:49 p.m.
Gene rating submitted by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group.Created: 7 Feb 2019, 2:43 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Tissue factor deficiency (Factor III); No OMIM number
Source Wessex and West Midlands GLH was added to F3.
Phenotypes for gene: F3 were changed from No OMIM number; Tissue factor deficiency (Factor III) to Tissue factor deficiency (Factor III)
Mode of inheritance for gene: F3 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mode of inheritance for gene: F3 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Gene: f3 has been classified as Amber List (Moderate Evidence).
Added phenotypes No OMIM number; Tissue factor deficiency (Factor III) for gene: F3
Source NHS GMS was added to F3.
gene: F3 was added gene: F3 was added to Thrombophilia. Sources: London South GLH Mode of inheritance for gene: F3 was set to