List of genes with anemia as a primary disorder or symptom in which a rare ClinVar “pathogenic” variant was observed in cases
Gene . | Disease association . | Inheritance mode . |
---|---|---|
ADAMTS13 | Thrombotic thrombocytopenic purpura | Recessive |
ANK1 | Spherocytosis 1 | Dominant |
FANCA | Fanconi anemia, complementation group A | Recessive |
G6PD | Nonspherocytic hemolytic anemia | Dominant |
MVK | Mevalonic aciduria | Dominant |
PKLR | Pyruvate kinase deficiency of red cells | Dominant |
SLC46A1 | Hereditary folate malabsorption | Recessive |
TF | Atransferrinemia | Recessive |
Gene . | Disease association . | Inheritance mode . |
---|---|---|
ADAMTS13 | Thrombotic thrombocytopenic purpura | Recessive |
ANK1 | Spherocytosis 1 | Dominant |
FANCA | Fanconi anemia, complementation group A | Recessive |
G6PD | Nonspherocytic hemolytic anemia | Dominant |
MVK | Mevalonic aciduria | Dominant |
PKLR | Pyruvate kinase deficiency of red cells | Dominant |
SLC46A1 | Hereditary folate malabsorption | Recessive |
TF | Atransferrinemia | Recessive |