Clinical Utility Gene Card for hereditary angioedema with normal C1 inhibitor (HAEnC1)

1. Name of the disease (synonyms) Hereditary angioedema type III (HAE-III) Estrogen-related hereditary angioedema Hereditary angioedema with factor XII mutations (FXII-HAE) Hereditary angioedema of unknown origin (U-HAE) 2. OMIM# of the disease 610618 3. Name of the analysed genes or DNA/chromosome segments: Coagulation factor XII; Hageman factor; F12; chromosome 5q.35.2-q35.3 4. OMIM# of the gene(s) 610619 Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the F12 gene(s) in ⊠ diagnostic, ⊠ predictive and ⊠ prenatal settings and for, ⊠ risk assessment in relatives.