heparin cofactor 2 deficiency
MONDO:0012876Mondo
Findings
No curated finding names heparin cofactor 2 deficiency 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.
- SERPIND1HGNC:4838
- Definitive · ClinGen · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
- A kind of
Other names
1 name
Resolves to: heparin cofactor 2 deficiency
- Also called
- thrombophilia 10 due to heparin cofactor II deficiency