thrombophilia due to protein S deficiency, autosomal dominant
MONDO:0012868Mondo
Findings
No curated finding names thrombophilia due to protein S deficiency, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency.
Definition from the Mondo Disease Ontology (MONDO:0012868), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PROS1HGNC:9456
- Definitive · Ambry Genetics · Semidominant · 2018
- Definitive · Ambry Genetics · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: thrombophilia due to protein S deficiency, autosomal dominant
- Also called
- autosomal dominant hereditary thrombophilia due to congenital protein S deficiencyhereditary thrombophilia due to congenital protein S deficiency, autosomal dominantthrombophilia 5 due to protein S deficiency, autosomal dominant