Inherited bone marrow failure syndrome—genetics known and presumed.
| Disorder . | Gene . | Locus . | Genetics . | Gene Product/MW (kDa) . |
|---|---|---|---|---|
| Fanconi Anemia (FA) | Autosomal Recessive | |||
| FANCA FANCB FANCC FANCD1 FANCD2 FANCE FANCF FANCG FANCI/J FANCL | 16q24.3 ? 9q22.3 3q12.3 13p25.3 6p21.3 11p15 9p13 ?/? 2p16.1 | FANCA/163 ? FANCC/63 BRCA2/380 FANCD2/155,162 FANCE/60 FANCF/40 FANCG/68 ?/? FANCL/43 | ||
| Dyskeratosis Congenita (DC) | DKC1 hTR (DKC2) DKC3 | Xq28 3q ? | X-linked Recessive Autosomal Dominant Autosomal Recessive | Dyskerin Telomerase RNA ? |
| Diamond-Blackfan Anemia (DBA) | RPS19 (DBA1) DBA2 DBA3 ? | 19q13.2 8p23.3-p22 ? | Autosomal Dominant Autosomal Recessive | RPS19 ? ? ? |
| Shwachman-Diamond Syndrome (SDS) | SBDS | 7q11 | Autosomal Recessive | SBDS |
| Kostmann Syndrome (SCN) | ELA2 ? | 19p13.3 ? | Autosomal Dominant Autosomal Recessive | Neutrophil elastase ? |
| Amegakaryocytic Thrombocytopenia | c-mpl | 1p34 | Autosomal Recessive | Thrombopoietin receptor |
| Disorder . | Gene . | Locus . | Genetics . | Gene Product/MW (kDa) . |
|---|---|---|---|---|
| Fanconi Anemia (FA) | Autosomal Recessive | |||
| FANCA FANCB FANCC FANCD1 FANCD2 FANCE FANCF FANCG FANCI/J FANCL | 16q24.3 ? 9q22.3 3q12.3 13p25.3 6p21.3 11p15 9p13 ?/? 2p16.1 | FANCA/163 ? FANCC/63 BRCA2/380 FANCD2/155,162 FANCE/60 FANCF/40 FANCG/68 ?/? FANCL/43 | ||
| Dyskeratosis Congenita (DC) | DKC1 hTR (DKC2) DKC3 | Xq28 3q ? | X-linked Recessive Autosomal Dominant Autosomal Recessive | Dyskerin Telomerase RNA ? |
| Diamond-Blackfan Anemia (DBA) | RPS19 (DBA1) DBA2 DBA3 ? | 19q13.2 8p23.3-p22 ? | Autosomal Dominant Autosomal Recessive | RPS19 ? ? ? |
| Shwachman-Diamond Syndrome (SDS) | SBDS | 7q11 | Autosomal Recessive | SBDS |
| Kostmann Syndrome (SCN) | ELA2 ? | 19p13.3 ? | Autosomal Dominant Autosomal Recessive | Neutrophil elastase ? |
| Amegakaryocytic Thrombocytopenia | c-mpl | 1p34 | Autosomal Recessive | Thrombopoietin receptor |