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GENATLAS PHENOTYPE
last update : 29-03-2014
Symbol GTMS
Location 7p15
Name Guttmacher syndrome
Corresponding gene HOXA13
Main clinical features
  • preaxial deficiency, postaxial polydactyly uniphalangeal 2(nd) toes and hypospadias, overlapping and allelic but distinct from the hand-foot genital syndrome
    • Genetic determination autosomal dominant
    Function/system disorder congenital malformation
    sex-genitalia
    Type disease
    Gene product
    Name homeobox A13
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     a missense mutation (1112A->T) perturbing DNA binding properties and resulting in both loss and gain of function
    Remark(s)