lunes, 17 de junio de 2013

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 Hussein1,13, Melanie Percy2,13, Mary Frances McMullin3,13, Jiří Schwarz4,13, Susanne Schnittger5,13, Naomi Porret6,13, Luz Maria Martinez-Aviles7,13, Beatriz Bellosillo Paricio7,13, Stéphane Giraudier8,13, Radek Skoda9,13, Eric Lippert10,13, Sylvie Hermouet11,13 and Holger Cario12,13
  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.

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