Laboratory of Gastroenterology and Hepatology (Radboud University Medical Center)
General information
Laboratory of Gastroenterology and Hepatology
Radboud University Medical Center
Geert Grooteplein Zuid 8
Nijmegen
Gelderland
Netherlands - 6525 GA
https://www.radboudumc.nl/verwijzers/verwijzersinformatie/laboratorium-maag-darm-en-leverziekten
Organization ID: 225897
Radboud University Medical Center
Geert Grooteplein Zuid 8
Nijmegen
Gelderland
Netherlands - 6525 GA
https://www.radboudumc.nl/verwijzers/verwijzersinformatie/laboratorium-maag-darm-en-leverziekten
Organization ID: 225897
Personnel
- Rene te Morsche
- Rene te Morsche, Lab Director
Phone: +31243616316
Email: rene.temorsche@radboudumc.nl
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 262
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ALG8 | 9 | May 16, 2024 |
| CDC25A | 4 | Sep 14, 2021 |
| CTNNB1 | 3 | Sep 14, 2021 |
| DKK3 | 5 | Sep 14, 2021 |
| GANAB | 18 | Sep 14, 2021 |
| HHEX | 1 | Sep 14, 2021 |
| HNF1B | 4 | Sep 14, 2021 |
| HNF4A | 3 | Sep 14, 2021 |
| LOC126806659 | 1 | Sep 14, 2021 |
| LOC126859690 | 1 | Sep 14, 2021 |
| LOC126862549 | 1 | Sep 14, 2021 |
| LOC129934769 | 1 | Dec 11, 2015 |
| LOC129992813 | 2 | Sep 14, 2021 |
| LOC130004359 | 1 | Sep 14, 2021 |
| LOC130005346 | 2 | Sep 14, 2021 |
| LOC130067168 | 3 | Sep 14, 2021 |
| LRP5 | 22 | Sep 14, 2021 |
| LRP6 | 12 | Sep 14, 2021 |
| NF2 | 1 | Sep 14, 2021 |
| ONECUT1 | 2 | Sep 14, 2021 |
| ONECUT2 | 4 | Sep 14, 2021 |
| PKD1 | 50 | Sep 14, 2021 |
| PKD1-AS1 | 7 | Sep 14, 2021 |
| PKD2 | 18 | Sep 14, 2021 |
| PKHD1 | 52 | Sep 14, 2021 |
| PRKCSH | 14 | Sep 14, 2021 |
| RUVBL1 | 2 | Sep 14, 2021 |
| SEC61A1 | 2 | Sep 14, 2021 |
| SEC61A2 | 1 | Sep 14, 2021 |
| SEC63 | 28 | Sep 14, 2021 |
| VMA12 | 3 | Feb 3, 2016 |
| VMA22 | 3 | Jul 7, 2016 |
| XBP1 | 3 | Sep 14, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal dominant polycystic kidney disease | 74 | Sep 14, 2021 |
| Autosomal dominant polycystic liver disease | 168 | May 16, 2024 |
| Congenital disorders of glycosylation type II | 6 | Jul 7, 2016 |
| Polycystic kidney disease, adult type | 8 | Feb 5, 2015 |
| Polycystic liver disease 1 | 6 | Apr 1, 2016 |
