Frequencies and genes identified in the SAA cohort. (A) Frequency of variant status across the full cohort of patients with aplastic anemia. Blue, no variant; red, carrier (single pathogenic variant in an autosomal recessive gene or X-linked recessive gene in females); green, unrecognized IBMFS. (B) The frequency of SAA patients with unrecognized IBMFS and (C) carrier status categorized by gene pathway. (D) The number of patients with pathogenic/likely pathogenic variants in an autosomal dominant gene and (E) the number of patients with pathogenic/likely pathogenic variants in autosomal recessive, X-linked, or dual inheritance gene. Red, hematopoiesis genes; blue, ribosome biology genes; green, telomere biology genes; purple, DNA damage response gene. Darker bars, unrecognized IBMFS; lighter bars, carriers.