Thrombophilia with a likely monogenic cause
Gene: PROZ

PROZ (protein Z, vitamin K dependent plasma glycoprotein)
EnsemblGeneIds (GRCh38): ENSG00000126231
EnsemblGeneIds (GRCh37): ENSG00000126231
OMIM: 176895, Gene2Phenotype
PROZ 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.

Created: 28 May 2019, 1:11 p.m.

Panel version: 0.35

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: 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 submitted
Created: 7 Feb 2019, 2:49 p.m.

Created: 7 Feb 2019, 2:49 p.m.

Panel version: 0.37

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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
614024 Protein Z deficiency

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2019, 2:43 p.m.

Panel version: 0.11

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Wessex and West Midlands GLH
Expert Review Amber
NHS GMS
London South GLH

Phenotypes

Protein Z deficiency, OMIM:614024

OMIM

176895

Clinvar variants

Variants in PROZ

Penetrance

None

Panels with this gene

History Filter Activity

25 Mar 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PROZ were changed from 614024 Protein Z deficiency to Protein Z deficiency, OMIM:614024

28 May 2019, Gel status: 2