Stroke
Gene: PROS1
Well established gene-disease association for both dominant and recessive disease. Multiple families and functional data including animal models.Created: 16 Apr 2022, 5:59 a.m. | Last Modified: 16 Apr 2022, 5:59 a.m.
Panel Version: 0.12983
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Thrombophilia 5 due to protein S deficiency, autosomal dominant, MIM# 612336; Thrombophilia 5 due to protein S deficiency, autosomal recessive, MIM# 614514
Publications
At least 3 families reported with stroke and a supporting null mouse model.
Sources: LiteratureCreated: 12 May 2020, 6:11 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 S deficiency
Publications
Gene: pros1 has been classified as Green List (High Evidence).
Gene: pros1 has been classified as Green List (High Evidence).
gene: PROS1 was added gene: PROS1 was added to Stroke. Sources: Literature Mode of inheritance for gene: PROS1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: PROS1 were set to 20484936; 25997409; 21172841; 19729839 Phenotypes for gene: PROS1 were set to Thrombophilia due to protein S deficiency Review for gene: PROS1 was set to GREEN