SCN genetic subtypes
| Subtype . | Approximate % of patients with SCN . | Chromosome location . | Gene product . | Exons . |
|---|---|---|---|---|
| Autosomal dominant | 50-60 | 19p13.3 | ELANE | 6 |
| <2 | 1p22.1 | GFI1 | 11 | |
| Autosomal recessive | 15 | 1q21.3 | HAX1 | 7 |
| 5 | 17q21.31 | G6PC3 | 8 | |
| Rare | 1q21.2 | VPS45 | 18 | |
| Rare | 1p34.3 | CSF3R | 19 | |
| ? | 3p25.3 | JAGN1 | 2 | |
| Miscellaneous syndromes* | — | — | — | — |
| Subtype . | Approximate % of patients with SCN . | Chromosome location . | Gene product . | Exons . |
|---|---|---|---|---|
| Autosomal dominant | 50-60 | 19p13.3 | ELANE | 6 |
| <2 | 1p22.1 | GFI1 | 11 | |
| Autosomal recessive | 15 | 1q21.3 | HAX1 | 7 |
| 5 | 17q21.31 | G6PC3 | 8 | |
| Rare | 1q21.2 | VPS45 | 18 | |
| Rare | 1p34.3 | CSF3R | 19 | |
| ? | 3p25.3 | JAGN1 | 2 | |
| Miscellaneous syndromes* | — | — | — | — |
A heterogeneous group that includes patients with neutropenia as part of a broader syndrome. Some of the genes and associated syndromes in this category are WAS (Wiskott-Aldrich syndrome protein), SBDS (Shwachman-Bodian-Diamond syndrome), G6PC (glycogen storage disease), CXCR4 (WHIM syndrome), TAZ (Barth syndrome), RBSN (syndromic myelofibrosis and neutropenia), and SMARCD2.