Among these, GP1BA (c.1591dup, c.1525C>T, and c.378C>G), ITGB3 (c.1394C>G), NBEAL2 (c.3796del), WAS (c.655G>T, deletions of exons 1-2), and MPL (c1511T>A) were notable for their association with severe thrombocytopenia and morphological platelet abnormalities. The gene discussed is WAS; the disease is Thrombocytopenia.