Mutant genes in the inherited bone marrow failure syndromes, as of 2007.
| Disorder . | Gene . | Locus . | Genomic DNA kb . | cDNA kb . | Exons . | Amino acids . | Genetics . | ~% of pts . |
|---|---|---|---|---|---|---|---|---|
| *KS is autosomal recessive, while most patients with SCN have autosomal dominant inheritance; WAS is X-linked. | ||||||||
| Fanconi anemia | FANCA | 16q24.3 | 80 | 5.5 | 43 | 1455 | AR | ~70 |
| FANCB | Xp22.31 | 30 | 2.8 | 10 | 859 | XLR | Rare | |
| FANCC | 9q22.3 | 219 | 4.6 | 14 | 558 | AR | ~10 | |
| FANCD1/(BRCA2) | 13q12.3 | 70 | 11.4 | 27 | 3418 | AR | Rare | |
| FANCD2 | 3p25.3 | 75 | 5 | 44 | 1451 | AR | Rare | |
| FANCE | 6p21.3 | 15 | 2.5 | 10 | 536 | AR | ~10 | |
| FANCF | 11p15 | 3 | 1.3 | 1 | 374 | AR | Rare | |
| FANCG (XRCC9) | 9p13 | 6 | 2.5 | 14 | 622 | AR | ~10 | |
| FANCI (KIAA1794) | 15q25-26 | 73 | 4.5 | 38 | 1328 | AR | Rare | |
| FANCJ (BACH1/BRIP1) | 17q22.3 | 180 | 4.5 | 20 | 1249 | AR | Rare | |
| FANCL (PHF9/POG) | 2p16.1 | 82 | 1.7 | 14 | 375 | AR | Rare | |
| FANCM (Hef) | 14q21.3 | 250 | 6.5 | 22 | 2014 | AR | Rare | |
| FANCN (PALB2) | 16p12.1 | 38 | 3.5 | 13 | 1186 | AR | Rare | |
| Dyskeratosis congenita | DKC1 | Xq28 | 15 | 2.6 | 15 | 514 | XLR | 36 |
| TERC | 3q26 | 1.25 | 0.45 | — | RNA | AD | 6 | |
| TERT | 5p15.53 | 43 | 4.02 | 16 | 1132 | AD | 1 | |
| NOP10 | 15q14-q15 | 2.25 | 0.195 | 2 | 64 | AR | <1 | |
| Diamond-Blackfan anemia | RPS19 | 19q13.3 | 11 | 0.6 | 6 | 145 | AD | 25 |
| RPS24 | 10q22-23 | 7 | 0.6 | 7 | 133,131,130 | AD | 2 | |
| ? | 8p | — | — | — | — | — | — | |
| Shwachman-Diamond syndrome | SBDS | 7 centromere | 7.9 | 1.6 | 5 | 250 | AR | 95 |
| Severe congenital neutropenia* | ELA2 | 19p13.3 | 5.3 | 0.9 | 5 | 240 | AD | 70–90 |
| GFI1 | 1p22 | 12.9 | 1.27 | 9 | 422 | AD | 2 | |
| WAS | Xp11.33-.22 | 7.6 | 1.8 | 12 | 502 | XLR | — | |
| Kostmann syndrome* | HAX1 | 1q21.3 | 4.1 | 1.1 | 7 | 279 | AR | — |
| Amegakaryotic thrombocytopenia | MPL | 1p34 | 17 | 3.7 | 12 | 635 | AR | ~100 |
| Thrombocytopenia absent radii | ? bigenic | 1q21.1 | — | — | — | — | AR | 100 |
| Disorder . | Gene . | Locus . | Genomic DNA kb . | cDNA kb . | Exons . | Amino acids . | Genetics . | ~% of pts . |
|---|---|---|---|---|---|---|---|---|
| *KS is autosomal recessive, while most patients with SCN have autosomal dominant inheritance; WAS is X-linked. | ||||||||
| Fanconi anemia | FANCA | 16q24.3 | 80 | 5.5 | 43 | 1455 | AR | ~70 |
| FANCB | Xp22.31 | 30 | 2.8 | 10 | 859 | XLR | Rare | |
| FANCC | 9q22.3 | 219 | 4.6 | 14 | 558 | AR | ~10 | |
| FANCD1/(BRCA2) | 13q12.3 | 70 | 11.4 | 27 | 3418 | AR | Rare | |
| FANCD2 | 3p25.3 | 75 | 5 | 44 | 1451 | AR | Rare | |
| FANCE | 6p21.3 | 15 | 2.5 | 10 | 536 | AR | ~10 | |
| FANCF | 11p15 | 3 | 1.3 | 1 | 374 | AR | Rare | |
| FANCG (XRCC9) | 9p13 | 6 | 2.5 | 14 | 622 | AR | ~10 | |
| FANCI (KIAA1794) | 15q25-26 | 73 | 4.5 | 38 | 1328 | AR | Rare | |
| FANCJ (BACH1/BRIP1) | 17q22.3 | 180 | 4.5 | 20 | 1249 | AR | Rare | |
| FANCL (PHF9/POG) | 2p16.1 | 82 | 1.7 | 14 | 375 | AR | Rare | |
| FANCM (Hef) | 14q21.3 | 250 | 6.5 | 22 | 2014 | AR | Rare | |
| FANCN (PALB2) | 16p12.1 | 38 | 3.5 | 13 | 1186 | AR | Rare | |
| Dyskeratosis congenita | DKC1 | Xq28 | 15 | 2.6 | 15 | 514 | XLR | 36 |
| TERC | 3q26 | 1.25 | 0.45 | — | RNA | AD | 6 | |
| TERT | 5p15.53 | 43 | 4.02 | 16 | 1132 | AD | 1 | |
| NOP10 | 15q14-q15 | 2.25 | 0.195 | 2 | 64 | AR | <1 | |
| Diamond-Blackfan anemia | RPS19 | 19q13.3 | 11 | 0.6 | 6 | 145 | AD | 25 |
| RPS24 | 10q22-23 | 7 | 0.6 | 7 | 133,131,130 | AD | 2 | |
| ? | 8p | — | — | — | — | — | — | |
| Shwachman-Diamond syndrome | SBDS | 7 centromere | 7.9 | 1.6 | 5 | 250 | AR | 95 |
| Severe congenital neutropenia* | ELA2 | 19p13.3 | 5.3 | 0.9 | 5 | 240 | AD | 70–90 |
| GFI1 | 1p22 | 12.9 | 1.27 | 9 | 422 | AD | 2 | |
| WAS | Xp11.33-.22 | 7.6 | 1.8 | 12 | 502 | XLR | — | |
| Kostmann syndrome* | HAX1 | 1q21.3 | 4.1 | 1.1 | 7 | 279 | AR | — |
| Amegakaryotic thrombocytopenia | MPL | 1p34 | 17 | 3.7 | 12 | 635 | AR | ~100 |
| Thrombocytopenia absent radii | ? bigenic | 1q21.1 | — | — | — | — | AR | 100 |