Stroke

Gene: PROC

Green List (high evidence)

PROC (protein C, inactivator of coagulation factors Va and VIIIa)
EnsemblGeneIds (GRCh38): ENSG00000115718
EnsemblGeneIds (GRCh37): ENSG00000115718
OMIM: 612283, Gene2Phenotype
PROC is in 8 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

PC deficiency is a cause for the development of stroke, particularly in young adults.
Sources: Literature
Created: 12 May 2020, 6:06 a.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Thrombophilia due to protein C deficiency

Publications

Chris Richmond (Genetic Health Queensland)

Green List (high evidence)

Two OMIM phenotypes:
1. Thrombophilia due to protein C deficiency, autosomal dominant (176860)
2. Thrombophilia due to protein C deficiency, autosomal recessive (612304)

Heterozygous 'carriers' of pathogenic variants in the PROC gene are said to have mild protein C deficiency which is often asymptomatic, but may involve recurrent venous thrombosis.

Biallelic/AR generally more severe & often neonatal onset.

Difficult to define penetrance as represents risk factor for thrombophilia.

Many papers, eg Tang et al 2014 report increased risk with odds ratios - Tang 2012: "incidence of thrombosis was greater in first-degree relatives with the c.565C.T mutation (7.9 per 1000 person-years) compared with those without this mutation (0.8 per 1000 person-years), with a relative risk of 8.8 (95%CI = 1.1?71.6) for thrombosis."
Created: 31 Dec 2019, 5:47 a.m. | Last Modified: 31 Dec 2019, 5:47 a.m.
Panel Version: 0.512

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Thrombophilia due to protein C deficiency, autosomal dominant (176860); Thrombophilia due to protein C deficiency, autosomal recessive (612304)

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Thrombophilia due to protein C deficiency
OMIM
612283
Clinvar variants
Variants in PROC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: proc has been classified as Green List (High Evidence).

12 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: proc has been classified as Green List (High Evidence).

12 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: PROC was added gene: PROC was added to Stroke. Sources: Literature Mode of inheritance for gene: PROC was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: PROC were set to 1511989; 20187890; 30356112; 32351850 Phenotypes for gene: PROC were set to Thrombophilia due to protein C deficiency Review for gene: PROC was set to GREEN