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GENATLAS PHENOTYPE
last update : 12-11-2020
Symbol ETM6
Location 1q21.2
Name tremor, hereditary essential, 6
Corresponding gene NOTCH2NLC
Main clinical features
  • adult-onset kinetic and/or postural tremor usually affecting the upper limbs; often involvement of the head, trunk, lower limbs, and/or voice
  • brain imaging does not show cerebellar atrophy or leukodystrophy
  • skin biopsy shows intranuclear eosinophilic inclusions in fibroblasts and sweat gland cells, which may be used for diagnosis
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Remark(s) . abnormal GGC repeat expansion in the 5' region of NOTCH2NLC gene is associated with essential tremor (PMID: 31899042))