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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessTremor, hereditary essential


Short information

Comprehensive differential diagnostic panel for Tremor, hereditary essential, comprising 5 and altogether 10 curated genes according to the clinical signs

Number of genes
9 Accredited laboratory test
Examined sequence length
16,2 kb (Core-/Core-canditate-Genes)
26,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications



Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
CTNNA32688NM_013266.4AD, Ass
DRD31203NM_000796.6AD, Ass
SCN4A5511NM_000334.4AR, Ass, AD
  • No OMIM-Gs linked

Informations about the disease

Clinical Comment

Essential tremor is a common movement disorder characterized mainly by bilateral tremor (postural and/or kinetic) in the upper limbs, but it may also spread to other parts of the body. Phenotypically, essential tremor manifests as mildly asymmetric during voluntary movements. The motor manifestations may be accompanied by non-motor symptoms (REM sleep disturbance, cognitive dysfunction, sensory abnormalities, dysautonomia symptoms, depression). Essential tremor can occur from childhood to old age. Despite possible secondary environmental influences, family history and age are considered as the most prevalent risk factors for essential tremor. The importance of genetic risk factors has also been demonstrated by the identification of genetic variants in family and twin studies, gene association studies, and genome-wide association studies. Nevertheless, only statistically validated genetic associations and susceptibility factors have been identified to date. Referenz: www.ncbi.nlm.nih.gov/pmc/articles/PMC7394223/


  • Alias: Essential tremor, hereditary
  • Allelic: Amyotrophic lateral sclerosis 6, with(-out frontotemporal dementia (FUS)
  • Allelic: Arrhythmogenic right ventricular dysplasia, familial, 13 (CTNNA3)
  • Allelic: Epileptic encephalopathy, early infantile, 41 (SLC1A2)
  • Allelic: Hyperkalemic periodic paralysis, type 2 (SCN4A)
  • Allelic: Hypokalemic periodic paralysis, type 2 (SCN4A)
  • Allelic: Mental retardation, AR 64 (LINGO1)
  • Allelic: Myasthenic syndrome, congenital, 16 (SCN4A)
  • Allelic: Myotonia congenita, atypical, acetazolamide-responsive (SCN4A)
  • Allelic: Neuronal intranuclear inclusion disease (NOTCH2NLC)
  • Allelic: Oculopharyngodistal myopathy 3 (NOTCH2NLC)
  • Allelic: Orofacial cleft 1 genomic region (STK32B)
  • Allelic: Paramyotonia congenita (SCN4A)
  • Allelic: Schizophrenia, susceptibility to (DRD3)
  • Essential tremor, hereditary, 1 (DRD3)
  • Essential tremor, hereditary, 4 (FUS)
  • Essential tremor, hereditary, 5 (TENM4)
  • Essential tremor, hereditary, 6 (NOTCH2NLC)
  • Tremor, hereditary essential, 6 (NOTCH2NLC)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Ass
  • Sus
  • n.k.
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined