Parkinson Disease 18, Autosomal Dominant, Susceptibility To; Park18

Description

Parkinson disease-18 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by Chartier-Harlin et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see {168600}.

Clinical Features

Phenotypes and symptoms related to Parkinson Disease 18, Autosomal Dominant, Susceptibility To; Park18

  • Tremor
  • Rigidity
  • Parkinsonism
  • Bradykinesia
  • Resting tremor
  • Lewy bodies

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Parkinson Disease 18, Autosomal Dominant, Susceptibility To; Park18 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
EIF4G1.

By Institute for Human Genetics University Clinic Freiburg (Germany).

EIF4G1
Specificity
100 %
Genes
100 %
Parkinson disease (NGS panel for 33 genes).

By CGC Genetics (Portugal).

SLC6A3, SNCA, SNCAIP, SNCB, SYNJ1, TAF1, TH, GIGYF2, UCHL1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, PARK7, ATP6AP2, LRRK2, CSF1R, ADH1C, DCTN1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Parkinson Disease Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC6A3, SNCA, SPR, SYNJ1, TAF1, GIGYF2, UCHL1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, PARK7, RAB39B, LRRK2, CHCHD2, VPS13C, ATP13A2, EIF4G1, GBA , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC20A2, SLC6A3, SNCA, SNCB, SPG11, SPR, SYNJ1, TAF1, TARDBP, TWNK, TH, GIGYF2, UCHL1, XPR1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, CHCHD10 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %
Parkinson Syndrome, autosomal dominant Panel.

By CeGaT GmbH (Germany).

SNCA, VPS35, HTRA2, LRRK2, CHCHD2, DNAJC13, EIF4G1, GBA, PRKAR1B, RAB29
Specificity
10 %
Genes
100 %
Parkinson all Panel.

By CeGaT GmbH (Germany).

ATXN2, SLC6A3, SNCA, SPG11, SPR, SYNJ1, TAF1, TH, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, PANK2, PARK7, RAB39B, ATP6AP2, LRRK2, ZFYVE26, CHCHD2 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Parkinson Disease.

By Asper Biogene Asper Biogene LLC (Estonia).

SLC6A3, SNCA, SPR, SYNJ1, TAF1, TH, GIGYF2, UCHL1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, PARK7, LRRK2, SLC30A10, DCTN1, ATP13A2, EIF4G1, FTL , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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