Welcome to the Eunefron Disease Gene analysis pages. Here, you can find the disease genes analysed by our partners or associated members.  
Click the disease of interest to go to the subsequent page. There you will find additional information and links to OMIM and questionnaire(s) you need to fill out and send before sending material.
Sending material always has to go through a research or medical center in the country of origin, using a purchase order.    
The primary contact person for a disease or disease group is listed on this page. If you click on the disease link, you may find additional contact persons if the gene(s) involved are tested elsewhere as well.
Disease Required Questionnaire Research/Diagnosis  Gene (s) Referent person
e-mail adress
Alport Syndrome Yes Diagnosis COL4A3, 4, 5 Corinne Antignac corinne.antignac@inserm.fr
Apparent Mineralocorticoid Excess Yes HSD11B2 Nine Knoers  n.knoers@antrg.umcn.nl 
Bartter Syndrome Yes Diagnosis SLC12A1, KCNJ1, CLCNKB, BSND1, SLC12A3 Nine Knoers  n.knoers@antrg.umcn.nl 
Branchio-Otorenal (BOR) Syndrome Yes Diagnosis EYA1, SIX1, SIX5 Olivier Devuyst olivier.devuyst@uclouvain.be
Cystic Kidney Disease Yes Research/Diagnosis UMOD Karin Dahan karin.dahan@ipg.be
Cystinosis Yes Diagnosis CTNS Corinne Antignac corinne.antignac@inserm.fr
Cystinuria Yes SLC7A9, SLC3A1 Nine Knoers  n.knoers@antrg.umcn.nl 
Dent  Disease Yes Diagnosis CLCN5 Rosa Vargas-Poussou rosa.vargas@egp.aphp.fr
Denys-Drash Syndrome Yes Diagnosis WT1 (exon 8-9) Corinne Antignac corinne.antignac@inserm.fr
Diabetes Insipidus Yes Research/Diagnosis AQP2, AVPR2, NPII, AVP Nine Knoers  n.knoers@antrg.umcn.nl 
Fabry Disease Yes Research/Diagnosis GLA Erik Ilso Christensen eic@ana.au.dk
Familial Mesangial Sclerosis  Yes WT1 Karin Dahan karin.dahan@ipg.be
Familial Benign Hypocalcemia/Autosomal Dominant Hypercalemia Yes Diagnosis CaSR Rosa Vargas-Poussou rosa.vargas@egp.aphp.fr
Hypomagnesemia Yes Research/Diagnosis CLDN16, 19, FXYD2, TRMP6 Dominik Müller dominik.mueller@charite.de
Frasier Syndrome Yes Diagnosis WT1 (exon 8-9) Corinne Antignac corinne.antignac@inserm.fr
Gitelman Syndrome  Yes Diagnosis SLC12A3, CLCNKB Nine Knoers  n.knoers@antrg.umcn.nl 
Hyperoxaluria, Primary, Type I Yes AGXT Karin Dahan karin.dahan@ipg.be
Hypophosphatemia Yes Diagnosis NPT2a, c, NHERF1, SLC34A1, 3, SLC9A3R1 Rosa Vargas-Poussou rosa.vargas@egp.aphp.fr
Imerslund/Grasbeck Yes Research/Diagnosis AMN, CUBN Erik Ilso Christensen eic@ana.au.dk
Liddle Syndrome Yes Diagnosis SCNN1B, SCNN1G Nine Knoers  n.knoers@antrg.umcn.nl 
Nail Patella Syndrome  Yes Diagnosis LMX1B Nine Knoers  n.knoers@antrg.umcn.nl 
Nephronophtisis and related disease  Yes Diagnosis NPHP1, 2, 3, 4, 5, 6, 8 Corinne Antignac corinne.antignac@inserm.fr
Nephrotic Syndrome Yes Diagnosis ACTN4, TRPC6, PLCE1, LAMB2, NPHS1, 2 Corinne Antignac corinne.antignac@inserm.fr
Papillo-Renal Syndrome Yes Diagnosis PAX2 Laurence Heidet laurence.heidet@nck.aphp.fr
Pseudohypoaldosteronism Yes Research/Diagnosis NRC3C2, SCNN1A, B, G, WNK1, 4 Xavier Jeunemaitre xavier.jeunemaitre@egp.aphp.fr
Renal Cysts and Diabetes (MODY5) Yes Research TCF2 Karin Dahan dahan@gmed.ucl.ac.be
Renal Glucosuria Yes SLC5A2/SLC16A12 Karin Dahan dahan@gmed.ucl.ac.be
Renal Tubular Acidosis (distal) Yes Diagnosis ATP6V0A4, ATP6V1B1, SLC4A1 Rosa Vargas-Poussou rosa.vargas@egp.aphp.fr
SALL-related disorders Yes SALL1, 4 Karin Dahan karin.dahan@ipg.be
Tuberous Sclerosis Yes TSC1, 2 Karin Dahan karin.dahan@ipg.be
Tubular Dysgenesis Yes Diagnosis AGTR1, AGT, REN, ACE Corinne Antignac corinne.antignac@inserm.fr
Wilms Tumor Yes Diagnosis WT1 Corinne Antignac corinne.antignac@inserm.fr