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Overview of included studies for DYT-THAP1:
Click here for summary of patients' characteristics
Click here for summary of genetic findings
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
definitely pathogenic mutations
probably pathogenic mutations
possibly pathogenic mutations
c.(71+1_72-1)_(1288+1_?)del
c.-220C>T
c.-237-3G>T
c.-32C>T
c.-42C>T
c.109dupG
c.112delG
c.115G>A
c.11C>T
c.134_135insGGGTT; c.137_139delAAC
c.150T>G
c.151A>G
c.153C>G
c.15C>G
c.161G>A
c.161G>T
c.167A>G
c.169C>A
c.16T>C
c.173T>C
c.174delT
c.176C>T
c.17C>T
c.197_198delAG
c.1A>G
c.207_209delCAA
c.208A>G
c.208_209delAA
c.20C>A
c.20_33del
c.214_215InsA
c.215T>G
c.224A>T
c.236delC
c.238A>G
c.23A>G
c.241T>C
c.25G>T
c.266A>G
c.267G>A
c.268-2A>G
c.289C>T
c.2delT
c.348delT
c.363_366dupGCCT
c.36C>A
c.370C>T
c.377_378delCT
c.388_389delTC
c.389_390delCA
c.38G>A
c.395T>C
c.407A>G
c.408C>G
c.410A>G
c.413delC
c.427A>G
c.436_443del
c.446T>C
c.449A>C
c.460delC
c.46A>G
c.474delA
c.496G>A
c.499C>T
c.506G>A
c.508T>C
c.50A>G
c.514dupA
c.521A>G
c.530T>C
c.539T>C
c.570delA
c.57C>T
c.5T>G
c.61T>A
c.62C>G
c.62C>T
c.63_66delTTTC
c.65T>C
c.67C>T
c.68A>C
c.70A>G
c.71+9C>A
c.71_71+9delAGTGAGGACC
c.72-1G>A
c.77C>G
c.77C>T
c.7C>T
c.83C>T
c.85C>T
c.86G>A
c.86G>C
c.89C>A
c.89C>G
c.97T>G
Country
Brazil
China
Czech Republic
Denmark
France
Germany
Greece
India
Japan
Netherlands
Poland
Serbia
United Kingdom
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Nikolov, 2019
Case report/Case series
1
n.a.
100%
n.a.
c.71+9C>A
: het
Dulovic-Mahlow, 2019
Family study
1
C
100%
9
p.Arg29*
: het
Ma, 2018
Mutational screen
1
A
100%
7
p.Cys33Gly
: het
Oterdoom, 2018
Case report/Case series
1
n.a.
100%
4
p.Arg29Pro
: het
Grimaldi, 2018
Other/Mixed
1
C
100%
35
p.Val2Gly
: het
Giri, 2017
Mutational screen
2
I
100%
7(+/-3)
p.Met143Val
: het
p.Lys70Valfs*15
: het
Zech, 2017
Case report/Case series
1
n.a.
0%
11
p.Ala38Glnfs*35
: het
Piovesana, 2017
Mutational screen
1
C
100%
25
p.Lys24Serfs*49
: het
de Gusmão, 2016
Mutational screen
1
n.a.
100%
24
p.Ser4Phe
: het
LeDoux, 2016
Mutational screen
5
n.a.
33%
38(+/-15)
p.Pro19Pro
: het
c.71+9C>A
: het
p.Ser51Arg
: het
p.Met143Val
: het
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