Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
Aplastic and other anaemias
Autosomal recessive
6p21.31
Fanconi anemia (FA) is characterized by bone marrow failure, developmental abnormalities, cancer predisposition, and cellular hypersensitivity to DNA cross-linking agents such as mitomycin C. Fanconi anemia complementation group E is caused by homozygous mutation in the FANCE gene on chromosome 6p21. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 600901.1 | Lebanon | Female | Yes | Pancytopenia; Growth delay; Ectopic ki... Pancytopenia; Growth delay; Ectopic kidney; Chromosomal breakage induced by crosslinking agents  | NM_021922.3:c.334del | Heterozygous, Homozygous | Autosomal, Recessive | Farah et al. 2020 |