Candidate IRD Genes

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

Locus arRP; hg19_67-113 Mb

1

arRP

Susanne Roosing

Susanne.Roosing[AT]radboudumc.nl

Nijmegen
 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

Frequently Asked Questions

  • How did this list come about?

    To facilitate the identification of additional patients with a variant in rarely mutated genes, we listed the genes in which we found a likely causative variant in one patient or family.

  • How unique is this?

    For all variants, ERDC members have scanned their WES data and did not find other patients with a variant in the same gene.

  • Is homozygosity mapping data being used?

    For autosomal recessive variants, homozygosity mapping data of approximately 300 families have been scanned by ERDC members who ruled out the presence of variants in this gene if located in a significantly large homozygous region.

  • What if I found a variant in one of these genes?

    If you also found a promising variant in one of these genes, you can contact the respective groupleader to exchange genetic and clinical data, with the possibility of publishing findings jointly and collaboratively.

  • What if I found another candidate IRD-associated gene?

    If you found another candidate IRD-associated gene and want to share this with ERDC-members, contact Susanne Roosing (This email address is being protected from spambots. You need JavaScript enabled to view it.).

Management Team

Elfride De Baere, MD, PhD
Chris Inglehearn, PhD (Chairman)
Susanne Kohl, PhD
Carlo Rivolta, PhD
Susanne Roosing, PhD (Coordinator)