Thrombophilia with a likely monogenic cause
Gene: PROZ
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: PROZ; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 614024 Protein Z deficiency; 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, autosomal or pseudoautosomal
Phenotypes
614024 Protein Z deficiency
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: PROZ were changed from 614024 Protein Z deficiency to Protein Z deficiency, OMIM:614024
Source Wessex and West Midlands GLH was added to PROZ.
Mode of inheritance for gene: PROZ was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: proz has been classified as Amber List (Moderate Evidence).
Added phenotypes 614024 Protein Z deficiency for gene: PROZ
Source NHS GMS was added to PROZ.
gene: PROZ was added gene: PROZ was added to Thrombophilia. Sources: London South GLH Mode of inheritance for gene: PROZ was set to