Parkinson Disease 17; Park17

Description

Parkinson disease-17 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by Wider et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see {168600}.

Clinical Features

Top most frequent phenotypes and symptoms related to Parkinson Disease 17; Park17

  • Intellectual disability
  • Tremor
  • Dystonia
  • Hyperhidrosis
  • Rigidity
  • Dyskinesia
  • Postural instability
  • Parkinsonism
  • Memory impairment
  • Bradykinesia

And another 4 symptoms. If you need more information about this disease we can help you.

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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 17; Park17 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Movement Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
Parkinson's Disease.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SLC6A3, SNCA, TAF1, TH, VPS35, FBXO7, PINK1, PARK7, LRRK2, CSF1R, DCTN1, ATP13A2, GBA, GCH1, MAPT, ATP1A3, PRKN, PLA2G6, POLG
Specificity
6 %
Genes
100 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
100 %
VPS35.

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

VPS35
Specificity
100 %
Genes
100 %
Parkinson disease 17 (PARK17, sequence analysis of VPS35 gene).

By CGC Genetics (Portugal).

VPS35
Specificity
100 %
Genes
100 %
Parkinson disease (NGS panel for 10 genes).

By CGC Genetics (Portugal).

SNCA, VPS35, FBXO7, PINK1, DNAJC6, PARK7, LRRK2, ATP13A2, PRKN, PLA2G6
Specificity
10 %
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 %

We have 23 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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