Clinical utility gene card for: Hereditary thrombocythemia

1.2 OMIM# of the disease 187950 (Thrombocythemia 1/THCYT1, autosomal dominant); 601977 (thrombocythemia 2/THCYT2, autosomal dominant and autosomal recessive); 614521 (thrombocythemia 3/THCYT3, autosomal dominant with incomplete penetrance); 300331 (thrombocythemia, X-linked, THCYTX, autosomal recessive). Note that the OMIM designation of the thrombocythemia types have been changed in 2012 following ‘erythrocytosis, familial 1–4 (ECYT1-4)’: 187950 was formerly ‘essential thrombocythemia’ (now THCYT1) and 601977 was formerly ‘benign familial microcytic thrombocytosis’ (now THCYT2).