Signs and symptoms
Genes
Methods
Links
Disclaimer
About us
Contact us
Patients
Users
Database
Login
Symptoms
Genes
Charts
Master gene for charts
Symptom Category
Disease
Category
Patients
Meta Files
Families
Roles
Users
Preview
Signs and Symptoms
Logout
Patients
Users
Database
Logout
Overview of included studies for HSP-REEP1:
Click here for summary of patients' characteristics
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.(105+1_106-1)_(182+1_183-1)del
c.(32+1_33-1)_(3108+1_?)dup
c.(32+1_33-1)_(105+1_106-1)del
c.(32+1_33-1)_(417+1_418-1)del
c.43G>T
c.50G>A
c.-1_2delCAT
c.104_105delAT
c.106-4A>G
c.106delG
c.124T>C
c.125G>A
c.166G>A
c.183-1_183insCT
c.183-2980_417+6233
c.183-2A>G
c.198T>G
c.1A>G
c.202_203delCTinsTA
c.209T>G
c.282delC
c.287T>C
c.303+2T > A
c.303G>A
c.337C>T
c.366G>T
c.417+1G>A
c.417+1G>T
c.49delC
c.512delC
c.528delG
c.537_540delCGGC
c.56C>G
c.56C>T
c.595+1G>A
c.595G>C
c.59C>A
c.68C>T
c.79G>C
c.89dupA
Country
Australia
Belgium
China
France
Germany
Greece
Ireland
Italy
Japan
Netherlands
Norway
Poland
Portugal
South Korea
Spain
United Kingdom
United States
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Kamada, 2018
Other/Mixed
6
A
50%
27(+/-13)
c.303+2T > A
: het
Morais, 2017
Mutational screen
1
C
100%
2
p.Ala27Pro
: het
Iqbal, 2017
Case report/Case series
2
n.a.
50%
12(+/-11)
p.Leu96Pro
: het
p.Trp42*
: het
Richard, 2017
Case report/Case series
1
n.a.
0%
20
p.Gly140Alafs*22
: het
Polymeris, 2016
Mutational screen
1
n.a.
100%
4
p.Asp56Asn
: het
Elert-Dobkowska, 2015
Mutational screen
6
n.a.
n.a.
24(+/-15)
p.Pro19Arg
: het
p.Ile70Arg
: het
p.Leu68*
: het
c.183-2A>G
: het
3'UTR, miRNA target site
: het
Show more (+2)
Ishiura, 2014
Mutational screen
2
A
n.a.
10(+/-3)
p.Asp31Glyfs*3
: het
c.183-2980_417+6233
: het
Kumar, 2013
Mutational screen
1
n.a.
100%
4
p.Ala20Glu
: het
de Bot, 2013
Family study
5
n.a.
60%
30(+/-15)
c.417+1G>T
: het
p.Met1?
: het
Goizet, 2011
Mutational screen
20
n.a.
65%
18(+/-20)
c.106-4A>G
: het
c.(32+1_33-1)_(105+1_106-1)del
: het
p.Tyr66*
: het
p.Trp42Arg
: het
p.Gly122Glyfs*46
: het
c.183-2A>G
: het
p.Pro19Leu
: het
p.Val36Serfs*4
: het
c.(105+1_106-1)_(182+1_183-1)del
: het
p.Ser23Phe
: het
p.Leu17Phefs*11
: het
p.Asp56Asn
: het
Show more (+9)
1
2
Next ›
Last page »
Show all studies on one page
© University of Lübeck. Last updated on
Feb. 11, 2020. Version: 3.5.91
MDSGene works best with JavaScript enabled. Please follow
these instructions
to activate JavaScript in your web browser.
MDSGene works best with JavaScript enabled. Please follow
these instructions
to activate JavaScript in your web browser.