Whole exome sequencing (WES) in IRDs indentifies rare variants with unknown pathogenic significance.
Gene with rare variant |
Chr. |
Retinal disease | Contact person | E-mail address | City |
ACBD5 | 10 | LCA, eoRD | Carmen Ayuso | CAyuso[AT]fjd.es |
Madrid |
ARHGEF16 |
1 |
arRP |
Susanne Roosing |
Susanne.Roosing[AT]radboudumc.nl |
Nijmegen |
ARHGEF17 | 11 | autoimmune retinopathy-like | Rando L.Allikmets |
rla22[AT]cumc.columbia.edu |
New York |
ARHGEF38 | 4 | bull's eye maculopathy | Rando L.Allikmets |
rla22[AT]cumc.columbia.edu |
New York |
BPHL | 6 | STGD | Rando L.Allikmets |
rla22[AT]cumc.columbia.edu |
New York |
C1ORF168 | 1 | bull's eye maculopathy | Rando L.Allikmets |
rla22[AT]cumc.columbia.edu |
New York |
C1ORF186 | 1 | arRP | Rando L.Allikmets | rla22[AT]cumc.columbia.edu |
New York |
CALHM3 |
10 |
arRP |
Gael Manes |
Gael.manes[AT]inserm.fr |
Montpellier |
COL6A6 |
3 |
adRP |
Daniel Schorderet |
daniel.schorderet[AT]irovision.ch |
Sion |
CRTAC1 |
10 |
iRP |
Gael Manes |
Gael.manes[AT]inserm.fr |
Montpellier |
CYP1A1 | 15 | STGD | Rando L.Allikmets | rla22[AT]cumc.columbia.edu |
New York |
DHX34 | 19 | STGD | Rando L.Allikmets |
rla22[AT]cumc.columbia.edu |
New York |
EML4 |
2 |
iRP |
Elfride de Baere |
Elfride.DeBaere[AT]UGent.be |
Ghent |
EPB41L4A | 5 | arSTGD | Rando L.Allikmets |
rla22[AT]cumc.columbia.edu |
New York |
FDFT1 | 8 | arRP | Chris Inglehearn |
C.Inglehearn[AT]leeds.ac.uk |
Leeds |
GMIP | 19 | STGD | Rando L.Allikmets |
rla22[AT]cumc.columbia.edu |
New York |
GRID2 |
4 |
LCA, eoRD |
Elfride de Baere |
Elfride.DeBaere[AT]UGent.be |
Ghent |
HEATR5A | 14 | arCRD | Rando L.Allikmets |
rla22[AT]cumc.columbia.edu |
New York |
IFT140 |
16 |
arRP |
Graham Black & Susanne Kohl |
graeme.black[AT]manchester.ac.uk / susanne.kohl[AT]uni-tuebingen.de |
Manchester / Tubingen |
Locus LCA; hg 19_17.6-18.8 Mb |
9 |
LCA |
Susanne Kohl |
susanne.kohl[AT]uni-tuebingen.de |
Tuebingen |
MAP7D2 | X | arCRD | Rando L.Allikmets |
rla22[AT]cumc.columbia.edu |
New York |
MYOM1 | 18 | arRP | Rando L.Allikmets |
rla22[AT]cumc.columbia.edu |
New York |
NDRG4 |
16 |
ACHM |
Susanne Roosing |
Susanne.Roosing[AT]radboudumc.nl |
Nijmegen |
OTOGL |
12 |
iRP |
Gael Manes |
Gael.manes[AT]inserm.fr |
Montpellier |
PPP1R21 |
2 |
arCRD |
Susanne Roosing |
Susanne.Roosing[AT]radboudumc.nl |
Nijmegen |
PRPS1 |
X |
xl-dominant RP |
Carmen Ayuso |
CAyuso[AT]fjd.es |
Madrid |
RCBTB1 |
13 |
BBS-like |
Elfride de Baere |
Elfride.DeBaere[AT]UGent.be |
Ghent |
SAMD11 |
1 |
arRP |
Carmen Ayuso |
Cayuso[AT]fjd.es |
Madrid |
SF3B2 |
11 |
adRP |
Elfride de Baere |
Elfride.DeBaere[AT]UGent.be |
Ghent |
SYTL4 |
X |
iRP |
Susanne Roosing |
Susanne.Roosing[AT]radboudumc.nl |
Nijmegen |
TCF20 | 22 | arCRD | Rando L.Allikmets |
rla22[AT]cumc.columbia.edu |
New York |
TECPR2 | 14 | ar, syndromic RP | Rando L.Allikmets |
rla22[AT]cumc.columbia.edu |
New York |
TJP1 | 15 | STGD | Rando L.Allikmets |
rla22[AT]cumc.columbia.edu |
New York |
USP16 |
21 |
arRP |
Gael Manes |
Gael.manes[AT]inserm.fr |
Montpellier |
VCAN | 5 | arVitreoretinal degeneration | Tamar Ben-Yosef | benyosef[AT]tx.technion.ac.il | Haifa |
XPNPEP2 |
X |
ACHM |
Gael Manes |
Gael.manes[AT]inserm.fr |
Montpellier |
ZNF513 |
2 |
adRP |
Susanne Roosing |
Susanne.Roosing[AT]radboudumc.nl |
Nijmegen |
Elfride De Baere, MD, PhD
Chris Inglehearn, PhD (Chairman)
Susanne Kohl, PhD
Carlo Rivolta, PhD
Susanne Roosing, PhD (Coordinator)