Inherited RUNX1 mutations in FPD/AML families
| Reference . | No. of families . | Family ID* . | RUNX1 mutation (on isoform C) . | Hematological malignancy . |
|---|---|---|---|---|
| 16 | 6 | 1 | Large deletion | AML |
| 2 | V118GfsX11 | AML | ||
| 3 | R204X | AML | ||
| 4 | R201X | AML | ||
| 5 | R201Q | AML | ||
| 6 | R166Q | AML | ||
| 193 | 1 | D198Y | MDS, AML | |
| 148 | 3 | 1 | K110E | Myeloblastic leukemia |
| 2 | R162fsX | AML | ||
| 3 | Y287X | AML | ||
| 194 | 1 | A134P | AML | |
| 143 | 1 | None† | MDS, AML | |
| 195 | 1 | V118GfsX11 | AML | |
| 196, 197, 164 | 1 | T246RfsX8 | CMML, AML | |
| 198 | 1 | T148HfsX9 | AML | |
| 199 | 1 | F330SfsX | MDS | |
| 151 | 5 | A | G363fsX227 | MDS, AML, ALL |
| B | A55fsX81 | AML | ||
| C | D123H | AML | ||
| D | K117fsX101 | MDS, AML, CMML | ||
| E | R320X | MDS, AML | ||
| 200 | 1 | P263LfsX48 | AML | |
| 162 | 1 | R201X | MDS, AML | |
| 163 | 4 | 1 | A156E | AML |
| 2 | R204Q | AML, T-ALL | ||
| 3 | Q335RfsX259 | AML, T-ALL | ||
| 4 | Large deletion | MDS, AML | ||
| 149 | 1 | S388X | MDS, AML | |
| 170 | 2 | 1 | Duplication of exons 2-6 | AML |
| 2 | Deletion of 35 amino acids | MDS, AML | ||
| 153 | 1 | R201X | AML, T-ALL | |
| 150, 165, 164 | 2 | A | R201Q | MDS, AML, T-ALL |
| B | R166X | AML | ||
| 147 | 3 | 1 | G170R | MDS, AML |
| 2 | Q262X | MDS, AML | ||
| 3 | t(16;21)(p13;q22) (de novo) | MDS, AML | ||
| 154 | 1 | G289fsX21 | MDS, CMML | |
| 201 | 1 | L472fsX123 | MDS, AML | |
| 159 | 3 | 1 | G199E | None |
| 2 | G170W | MDS, AML | ||
| 3 | N260fsX50 | MDS, AML | ||
| 155 | 1 | L472P | AML, HCL | |
| 166 | 7 | 16 | N260fs | None |
| 18 | F330fs | MDS, AML | ||
| 19 | R201X | AML | ||
| 32 | L472P | HCL | ||
| 53 | G289fs | MDS | ||
| 54 | S167N | MDS, AML | ||
| 57 | G199E | None | ||
| 168 | 1 | R166X | AML | |
| 145 | 4 | 4 | V118GfsX6 | None |
| 5 | R166Q (de novo) | None | ||
| 6 | D198N (de novo) | None | ||
| 7 | R201PfsX12 | None | ||
| 171 | 9 | A | R107H | AML |
| B | A156E | AML | ||
| C | R201Q | AML, T-ALL | ||
| D | R204Q | AML, T-ALL | ||
| E | T196R | MDS, AML | ||
| F | Q335RfsX261 | AML, T-ALL | ||
| G | I364MfsX230 | None | ||
| H | T148HfsX9 | AML | ||
| I | R166X | AML | ||
| 202 | 1 | W279X | None | |
| 164 | 8 | 5 | P245S | None |
| 6 | G135V | T-ALL | ||
| 7 | D332TfsX | AML | ||
| 8 | H404PfsX | AML | ||
| 9 | G135V | None | ||
| 10 | G170RfsX | AML | ||
| 11 | T196R | None | ||
| 14 | T148HfsX | AML | ||
| 172 | 2 | 32 | L472P | HCL |
| 58 | N465K | MDS |
| Reference . | No. of families . | Family ID* . | RUNX1 mutation (on isoform C) . | Hematological malignancy . |
|---|---|---|---|---|
| 16 | 6 | 1 | Large deletion | AML |
| 2 | V118GfsX11 | AML | ||
| 3 | R204X | AML | ||
| 4 | R201X | AML | ||
| 5 | R201Q | AML | ||
| 6 | R166Q | AML | ||
| 193 | 1 | D198Y | MDS, AML | |
| 148 | 3 | 1 | K110E | Myeloblastic leukemia |
| 2 | R162fsX | AML | ||
| 3 | Y287X | AML | ||
| 194 | 1 | A134P | AML | |
| 143 | 1 | None† | MDS, AML | |
| 195 | 1 | V118GfsX11 | AML | |
| 196, 197, 164 | 1 | T246RfsX8 | CMML, AML | |
| 198 | 1 | T148HfsX9 | AML | |
| 199 | 1 | F330SfsX | MDS | |
| 151 | 5 | A | G363fsX227 | MDS, AML, ALL |
| B | A55fsX81 | AML | ||
| C | D123H | AML | ||
| D | K117fsX101 | MDS, AML, CMML | ||
| E | R320X | MDS, AML | ||
| 200 | 1 | P263LfsX48 | AML | |
| 162 | 1 | R201X | MDS, AML | |
| 163 | 4 | 1 | A156E | AML |
| 2 | R204Q | AML, T-ALL | ||
| 3 | Q335RfsX259 | AML, T-ALL | ||
| 4 | Large deletion | MDS, AML | ||
| 149 | 1 | S388X | MDS, AML | |
| 170 | 2 | 1 | Duplication of exons 2-6 | AML |
| 2 | Deletion of 35 amino acids | MDS, AML | ||
| 153 | 1 | R201X | AML, T-ALL | |
| 150, 165, 164 | 2 | A | R201Q | MDS, AML, T-ALL |
| B | R166X | AML | ||
| 147 | 3 | 1 | G170R | MDS, AML |
| 2 | Q262X | MDS, AML | ||
| 3 | t(16;21)(p13;q22) (de novo) | MDS, AML | ||
| 154 | 1 | G289fsX21 | MDS, CMML | |
| 201 | 1 | L472fsX123 | MDS, AML | |
| 159 | 3 | 1 | G199E | None |
| 2 | G170W | MDS, AML | ||
| 3 | N260fsX50 | MDS, AML | ||
| 155 | 1 | L472P | AML, HCL | |
| 166 | 7 | 16 | N260fs | None |
| 18 | F330fs | MDS, AML | ||
| 19 | R201X | AML | ||
| 32 | L472P | HCL | ||
| 53 | G289fs | MDS | ||
| 54 | S167N | MDS, AML | ||
| 57 | G199E | None | ||
| 168 | 1 | R166X | AML | |
| 145 | 4 | 4 | V118GfsX6 | None |
| 5 | R166Q (de novo) | None | ||
| 6 | D198N (de novo) | None | ||
| 7 | R201PfsX12 | None | ||
| 171 | 9 | A | R107H | AML |
| B | A156E | AML | ||
| C | R201Q | AML, T-ALL | ||
| D | R204Q | AML, T-ALL | ||
| E | T196R | MDS, AML | ||
| F | Q335RfsX261 | AML, T-ALL | ||
| G | I364MfsX230 | None | ||
| H | T148HfsX9 | AML | ||
| I | R166X | AML | ||
| 202 | 1 | W279X | None | |
| 164 | 8 | 5 | P245S | None |
| 6 | G135V | T-ALL | ||
| 7 | D332TfsX | AML | ||
| 8 | H404PfsX | AML | ||
| 9 | G135V | None | ||
| 10 | G170RfsX | AML | ||
| 11 | T196R | None | ||
| 14 | T148HfsX | AML | ||
| 172 | 2 | 32 | L472P | HCL |
| 58 | N465K | MDS |