Thrombophilia with a likely monogenic cause

Gene: TFPI

Amber List (moderate evidence)

TFPI (tissue factor pathway inhibitor)
EnsemblGeneIds (GRCh38): ENSG00000003436
EnsemblGeneIds (GRCh37): ENSG00000003436
OMIM: 152310, Gene2Phenotype
TFPI is in 2 panels

3 reviews

PATRICIA BIGNELL (Oxford Hospitals NHS Foundation Trust)

Red List (low evidence)

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.

Louise Daugherty (Genomics England Curator)

I don't know

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 Red
Created: 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: TFPI; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: not submitted; PMID(s): none submitted
Created: 7 Feb 2019, 2:49 p.m.

Michael Mitchell (Guy's & St. Thomas' NHS Trust)

I don't know

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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • Expert Review Amber
  • NHS GMS
  • London South GLH
OMIM
152310
Clinvar variants
Variants in TFPI
Penetrance
None
Panels with this gene

History Filter Activity

28 May 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to TFPI.

7 Feb 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: tfpi has been classified as Amber List (Moderate Evidence).

7 Feb 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: TFPI was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

7 Feb 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TFPI.

7 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TFPI was added gene: TFPI was added to Thrombophilia. Sources: London South GLH Mode of inheritance for gene: TFPI was set to