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GENATLAS PHENOTYPE
last update : 14-05-2019
Symbol TMTS
Location 12p13.33
Name Timothy syndrome
Other name(s) long QT syndrome with syndactyly
Corresponding gene CACNA1C
Other symbol(s) TS, LQT8
Main clinical features
  • multiorgan dysfunction, including lethal arrhythmias, webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities, and autism
    • Genetic determination
    Function/system disorder congenital malformation
    defense and immunity
    Type disease
    Gene product
    Name calcium channel, voltage-dependent, L type, alpha 1C subunit
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function exon 8, atypical form with severe QT prolongation, severe mental retardation, and nemaline-myopathy
    missense   abnormal protein/gain of function exon 8 A , classical form with syndactyly
    Remark(s)