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GENATLAS PHENOTYPE
last update : 09-04-2015
Symbol XLT
Location Xp11.23
Name thrombocytopenia 1
Corresponding gene WAS
Other symbol(s) THC1,XLRT
Main clinical features
  • X- linked thrombocytopenia without or with mild Wiskott-Aldrich syndrome symptoms
    • Genetic determination sex linked
    Related entries WASP, XLN
    Function/system disorder hematology
    Type disease
    Gene product
    Name Wiskott-Aldrich syndrome protein (WASP)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     typically missense mutations
    Remark(s)
  • allelic disorder to Wiskott-Aldrich syndrome (WASP) and X-linked neutropenia (XLN)
  • missense mutations WASPRL46P or WASPRA47D affect the activity of WAS
    • in T cell chemotaxis probably by affecting the turnover of the protein (PMID: 25200405))
    Genotype/Phenotype correlations no consistent correlation between a specific mutation and clinical outcome