Heterozygous mutation in SOS1 was associated with bone marrow dysplasia and anemia in a patient [From PMID:31130284]
Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
Haemolytic anaemias
Autosomal Dominant
2p22.1
Heterozygous mutation in SOS1 was associated with bone marrow dysplasia and anemia in a patient [From PMID:31130284]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| SOS1.1 | United Arab Emirates | Male | No | Anemia; Myelodysplasia Anemia; Myelodysplasia  | NM_005633.3:c.1297G>A | Heterozygous | Autosomal, Dominant | Monies et al. 2019 | Previously unreporte... |