Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 25-04-2017
Symbol ATXP
Location 14q11.2
Name ataxia–pancytopenia
Corresponding gene TINF2
Main clinical features
  • cerebellar ataxia, reduced nerve conduction velocity, sensorimotor peripheral neuropathies, hypoplastic anemia and a predilection to myelodysplastic syndrome, monosomy 7 and acute myeloid leukemia
  • Genetic determination autosomal dominant
    Function/system disorder hematology
    neurology
    Type disease
    Remark(s)