Hereditary Angioedema with Normal C1INH Genes
- Sequencing of known variants in 6 OMIM HAE-related genes (see table)
- Duplication/deletion testing for F12 gene, exons 1-12, except exon 3
| Gene | OMIM | Exon(s) | ||
|---|---|---|---|---|
| nlC1INH gene | Screen for known HAE Variant(s) | |||
| F12 gene | 610618 | 9 | c.983C>A, p.Thr328Lys | |
| c.983C>G, p.Thr328Arg | ||||
| KNG1 gene | 619363 | 10 | c.1136T>A, p.Met379Lys | |
| c1720C>G, p.Pro574Ala | ||||
| ANGPT1 gene | 619361 | 2 | c.355G>T, p.Ala119Ser | |
| PLG gene | 619360 | 9 | c.988A>G, p.Lys330Glu | |
| 18 | c2183T>A, p.Val728Glu | |||
| MYOF gene | 619366 | 7 | c.651G>T, p.Arg217Ser | |
| 25 | c2576delG, p.Gly859Glufs*8 | |||
| HS3ST6 gene | 619367 | 2 | c.430A>T, p.Thr144Ser | |
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