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 |
CCDC115 | 3 | Jul 7, 2016 |
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 |
TMEM199 | 3 | Feb 3, 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 |