European Journal of Human Genetics - Clinical utility gene card for: Hereditary thrombocythemia

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European Journal of Human Genetics - Clinical utility gene card for: Hereditary thrombocythemia

Clinical Utility Gene Card

European Journal of Human Genetics advance online publication 5 June 2013; doi: 10.1038/ejhg.2013.117

Clinical utility gene card for: Hereditary thrombocythemia

Kais Hussein^1,13, Melanie Percy^2,13, Mary Frances McMullin^3,13, Jiří Schwarz^4,13, Susanne Schnittger^5,13, Naomi Porret^6,13, Luz Maria Martinez-Aviles^7,13, Beatriz Bellosillo Paricio^7,13, Stéphane Giraudier^8,13, Radek Skoda^9,13, Eric Lippert^10,13, Sylvie Hermouet^11,13 and Holger Cario^12,13

1. ¹Institute of Pathology, Hannover Medical School, Hannover, Germany
2. ²Department of Hematology, Belfast City Hospital, Belfast, UK
3. ³Department of Hematology, Queen’s University, Belfast, UK
4. ⁴Institute of Hematology and Blood Transfusion, Prague, Czech Republic
5. ⁵MLL Munich Leukemia Laboratory, Munich, Germany
6. ⁶Department of Hematology, Inselspital, Bern, Switzerland
7. ⁷Department of Pathology, Hospital del Mar Barcelona, Barcelona, Spain
8. ⁸Department of Hematology, Hopital H Mondor AP-HP Paris, Paris, France
9. ⁹University Hospital Basel, Basel, Switzerland
10. ¹⁰University Hospital, Bordeaux, France
11. ¹¹Inserm UMR892/CNRS UMR6299, Centre de Recherche en Cancérologie Nantes-Angers, Institut de Recherche en Santé, Université de Nantes, Nantes, France
12. ¹²Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany

Correspondence: Dr K Hussein, Institute of Pathology, Hannover Medical School, Carl-Neuberg-Street 1, 30625 Hannover, Germany. Tel: +49 0 511 532 4501; Fax: +49 0 511 532 5799; E-mail: Hussein.Kais@mh-hannover.de

¹³Members of COST Action BM0902 (MPN&MPNr-EuroNet).

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1. DISEASE CHARACTERISTICS

1.1 Name of the disease (synonyms)

Hereditary thrombocythemia (congenital or familial thrombocytosis or essential 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).

1.3 Name of the analyzed genes or DNA/chromosome segments

Thrombopoietin (THPO)/3q27; myeloproliferative leukemia virus oncogene (MPL, synonym thrombopoietin receptor)/1p34; Janus kinase 2 (JAK2)/9q24.