Stroke
Gene: PROC
PC deficiency is a cause for the development of stroke, particularly in young adults.
Sources: LiteratureCreated: 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
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
Gene: proc has been classified as Green List (High Evidence).
Gene: proc has been classified as Green List (High Evidence).
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