Gene variants in the IBMF cohort. (A) Number of gene variants identified using WES analysis in 179 patients. This collection of variants was further analyzed in comprehensive, iterative roundtable sessions that enabled us to assign each patient into 1 of 3 groups and provide final lists of genes as shown in panels B and C and supplemental Tables 8 and 9. (B) Distribution of patients into 3 groups: group 1, patients assigned with a causal or likely causal gene variant; group 2, patients with possibly contributing variants but no established molecular diagnosis; group 3, patients with no relevant genetic variant identified. (C) Distribution of the genes retained as causal or likely causal (86 patients, also see supplemental Table 8). (D) Integrated matrix of the 86 assigned patients and gene variants. The top part of the panel shows clinical, hematological criteria, and family history. #, consanguinity as screened by WES analysis; *, patients with BM blast cells ≥5% in a context of dysplasia. The remaining part of the panel shows gene mutations including co-occurring mutations. Genes are grouped by broad biological pathways. The distribution of additional, possibly contributing, variants is also shown in the bottom part. (E) Circos plot representation of co-occurring mutations in causal or likely causal BMF genes. Ribbon width is proportional to the number of co-occurrences between genes.