Genes implicated in monogenic predisposition to B-ALL
| Genetic defect | Carrier status | Effect | Reference |
|---|---|---|---|
| CDKN2A | het | Hypomorphic/LOF | (84) |
| ETV6 | het | Hypomorphic/LOF/DN | (85) |
| IKZF1 | het | Hypomorphic or LOF | (86) |
| NBN | het | LOF | (87) |
| PAX5 | het | LOF | (88) |
| SH2B3 | hom | LOF | (89) |
| TCF3 | het | LOF/HI | (90) |
| hom | LOF | (21) | |
| TP53 | het | Hypomorphic or LOF | (91) |
| TRAF3IP3 | het | Structural variant in chromosome 1q32.2 | (92) |
| USP9X | het | LOF | (93) |
| Genetic defect | Carrier status | Effect | Reference |
|---|---|---|---|
| het | Hypomorphic/LOF | ( | |
| het | Hypomorphic/LOF/DN | ( | |
| het | Hypomorphic or LOF | ( | |
| het | LOF | ( | |
| het | LOF | ( | |
| hom | LOF | ( | |
| het | LOF/HI | ( | |
| hom | LOF | ( | |
| het | Hypomorphic or LOF | ( | |
| het | Structural variant in chromosome 1q32.2 | ( | |
| het | LOF | ( |
Het, heterozygous; hom, homozygous; DN, dominant negative; HI, haploinsufficient.
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