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GENATLAS PHENOTYPE
last update : 11-10-2010
Symbol THC2
Location 10p12.1
HGNC id 11790
Name thrombocytopenia 2
Corresponding gene MASTL , ANKRD26 , ACBD5
Main clinical features
  • normal megakaryocyte count
  • thrombocytopenia ranging from mild to severe and suffered from a mild bleeding diathesis without any major bleeding events (PMID: 21211618))
    • Genetic determination autosomal dominant
    Function/system disorder hematology
    Type disease
    Gene product
    Name microtubule associated serine/threonine kinase-like
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    various types   abnormal protein/gain of function gain of function effect rather than a haploinsufficiency of ANKRD26 (PMID: 21211618)
    Remark(s) . mutations observed in THC2 patients interfere with the mechanisms controlling the expression of ANKRD26 and affect megakaryopoiesis and platelet production, possibly by induction of apoptosis (PMID: 21211618))