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Overview of included studies for PARK-LRRK2:
Click here for summary of patients' characteristics
Click here for summary of in vitro effect of mutations on LRRK2 kinase pathway activity
Click here to show world map of all countries
Filter for
all included patients
index patients only
AAO < 50 (adjustable)
AAO >= 50 (adjustable)
females only
males only
homozygous only
heterozygous only
compound heterozygous only
homozygous and compound heterozygous
carrying
pathogenic variant
likely pathogenic variant
variant of uncertain significance
c.1004A>G
c.1132C>T
c.1163T>C
c.1240G>A
c.1256C>T
c.1310T>C
c.1312T>C
c.1375G>T
c.1382G>T
c.1421A>G
c.158A>G
c.1630A>G
c.1735A>G
c.1829T>C
c.1847A>G
c.1898C>T
c.1982C>T
c.2025A>G
c.2165G>A
c.2170A>G
c.2200G>A
c.2216A>G
c.2291G>A
c.2299C>T
c.2300G>A
c.2314C>T
c.2327C>T
c.2352C>A
c.2356A>T
c.2375G>A
c.2378G>T
c.2480C>T
c.2500+5delGTAA
c.2531T>A
c.2653A>T
c.2697A>C
c.2769G>C
c.2789A>G
c.2821G>T
c.2831A>T
c.2843G>A
c.2873C>T
c.28G>A
c.2915A>G
c.2917A>G
c.2918G>A
c.2942G>A
c.299T>C
c.3020G>C
c.3056A>G
c.3200G>A
c.3287C>G
c.3342A>G
c.3364A>G
c.3382C>A
c.3451G>A
c.3455G>T
c.3477T>G
c.3494T>C
c.3542C>A
c.3574A>G
c.3576T>G
c.3643G>A
c.3647A>G
c.3683G>C
c.3812C>T
c.3960G>T
c.3974G>A
c.4001G>A
c.4017T>G
c.4018G>A
c.4057C>A
c.4106T>C
c.4117G>A
c.4165G>A
c.4192C>T
c.4194T>G
c.4205A>G
c.4215T>A
c.4280A>G
c.4306T>C
c.4309A>C
c.4309A>G
c.4310A>G
c.4317+1G>C
c.4318G>C
c.4321C>A
c.4321C>G
c.4321C>T
c.4322G>A
c.4324G>C
c.4334C>G
c.4337C>T
c.4339G>A
c.4348G>A
c.4351G>A
c.4391C>G
c.4402A>G
c.4439C>T
c.4441G>A
c.4448G>A
c.4471_4473delACC
c.4474G>A
c.4501C>T
c.4536+3A>G
c.4559G>C
c.458T>G
c.4621G>A
c.4642A>G
c.4654C>T
c.4765G>T
c.4827+6T>A
c.4827+78T>C
c.4827+79T>C
c.4838T>C
c.4859A>G
c.4862A>G
c.4863C>A
c.4864C>A
c.4865C>T
c.4867A>G
c.4876A>G
c.4879T>A
c.4880C>T
c.4882C>T
c.4934A>C
c.4943A>G
c.4946A>C
c.5031G>C
c.5096A>G
c.5098T>C
c.5136A>T
c.5174G>A
c.518A>G
c.5255C>G
c.5266G>T
c.5267A>G
c.5273A>C
c.5281A>C
c.5318-29G>T
c.5321G>A
c.5385G>C
c.5385G>T
c.5417C>T
c.5467C>A
c.5605A>G
c.5606T>C
c.5620G>T
c.5659G>A
c.5672G>C
c.5740C>A
c.574T>G
c.577G>A
c.5822G>A
c.5882A>G
c.5949-28A>T
c.5971A>G
c.6016T>C
c.6028G>A
c.6035T>C
c.6055G>A
c.6058A>C
c.6059T>C
c.6059T>G
c.6091A>T
c.6187_6191delCTCTA
c.632C>T
c.6398A>G
c.6415T>A
c.6503G>T
c.6523G>C
c.6566A>G
c.6707A>G
c.6752A>C
c.6880G>A
c.689A>G
c.6922A>G
c.6929C>T
c.6938A>G
c.6967A>T
c.7006A>G
c.7049G>T
c.7067C>T
c.713A>T
c.7153G>A
c.7168G>A
c.7169T>C
c.7224G>A
c.7267A>T
c.7300A>G
c.7315C>A
c.7388T>C
c.7390+178A>G
c.7481C>T
c.749A>G
c.7570A>G
c.763G>A
c.774A>T
c.856C>G
c.872T>C
c.917C>T
c.922T>A
c.935C>T
c.958A>T
Country
Algeria
Argentina
Australia
Austria
Belarus
Belgium
Brazil
Canada
Chile
China
Colombia
Costa Rica
Cuba
Czech Republic
Denmark
Ecuador
Egypt
Estonia
Faroe Islands
Finland
France
Germany
Greece
Guatemala
Hungary
India
Iran
Ireland
Israel
Italy
Japan
Kazakhstan
Libya
Lithuania
Malaysia
Malta
Mexico
Mixed/Other
Morocco
Netherlands
Norway
Peru
Poland
Portugal
Puerto Rico
Russia
Serbia
Singapore
Slovakia
South Africa
South Korea
Spain
Sweden
Taiwan
Tunisia
Turkey
United Kingdom
United States
Uruguay
Zambia
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Kessler, 2018
Mutational screen
5
n.a.
60%
54(+/-20)
Ala211Val
: het
Gly2019Ser
: het
Arg1067Gln
: het
Thr2494Ile
: het
Show more (+1)
Fan, 2018
Case report/Case series
5
n.a.
20%
61(+/-18)
Gly2019Ser
: het
Vilas, 2018
Case report/Case series
1
JA
100%
n.a.
Gly2019Ser
: het
Schormair, 2018
Mutational screen
5
n.a.
50%
36(+/-6)
Ala306Val
: het
Gly2019Ser
: het
Arg1398Cys
: het
Thr2356Ile
: het
Show more (+1)
Bouhouche, 2017
Mutational screen
1
B
n.a.
48
Gly2019Ser
: hom
Ylönen, 2017
Mutational screen
2
n.a.
n.a.
n.a.
Cys1152Phe
: het
Ser1627Leu
: het
da, 2017
Associated study
6
n.a.
n.a.
n.a.
Gly2019Ser
: het
Sierra, 2017
Case report/Case series
3
H
67%
n.a.
Gly2019Ser
: het
Cornejo-Olivas, 2017
Mutational screen
25
n.a.
100%
37(+/-11)
Gly2019Ser
: hom
Gly2019Ser
: het
Arg1441Cys
: het
Arg1441Gly
: het
Show more (+1)
Bouhouche, 2017
Associated study
40
n.a.
n.a.
n.a.
Gly2019Ser
: hom
Gly2019Ser
: het
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