Table 1.

List of genes with anemia as a primary disorder or symptom in which a rare ClinVar “pathogenic” variant was observed in cases

GeneDisease associationInheritance 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 
GeneDisease associationInheritance 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 
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