Bleeding and Platelet Disorders
Gene: PROS1EnsemblGeneIds (GRCh38): ENSG00000184500
EnsemblGeneIds (GRCh37): ENSG00000184500
OMIM: 176880, Gene2Phenotype
PROS1 is in 7 panels
1 review
Jane Lin (The Alfred Hospital)
Strong gene-phenotype link. Many publications for both both autosomal dominant and autosomal recessive inheritance of PROS1 variants and thrombosis phenotype.
Sources: Expert listCreated: 12 Aug 2024, 2:10 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Thrombophilia 5 due to protein S deficiency, autosomal dominant #612336; Thrombophilia 5 due to protein S deficiency, autosomal recessive #614514
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Thrombophilia 5 due to protein S deficiency, autosomal dominant #612336
- Thrombophilia 5 due to protein S deficiency, autosomal recessive #614514
- OMIM
- 176880
- Clinvar variants
- Variants in PROS1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pros1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pros1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Jane Lin (The Alfred Hospital)gene: PROS1 was added gene: PROS1 was added to Bleeding and Platelet Disorders. Sources: Expert list 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 PMID: 2521801; PMID: 7545463; PMID: 2231208; PMID: 10063989 Phenotypes for gene: PROS1 were set to Thrombophilia 5 due to protein S deficiency, autosomal dominant #612336; Thrombophilia 5 due to protein S deficiency, autosomal recessive #614514 Review for gene: PROS1 was set to GREEN gene: PROS1 was marked as current diagnostic