thrombophilia due to protein C deficiency, autosomal dominant
MONDO:0008316Mondo
Findings
No curated finding names thrombophilia due to protein C deficiency, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
- PROCHGNC:9451
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- 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
1 name
Resolves to: thrombophilia due to protein C deficiency, autosomal dominant
- Also called
- thrombophilia 3 due to protein C deficiency, autosomal dominant