Stroke
Gene: PROS1EnsemblGeneIds (GRCh38): ENSG00000184500
EnsemblGeneIds (GRCh37): ENSG00000184500
OMIM: 176880, Gene2Phenotype
PROS1 is in 7 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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
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 S deficiency
- OMIM
- 176880
- Clinvar variants
- Variants in PROS1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pros1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pros1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)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