Erasmus University Medical Center (Erasmus University Medical Center)
General information
Erasmus University Medical Center
Erasmus University Medical Center
Erasmus MC Faculty building; Wytemaweg 80
Rotterdam
Netherlands - 3015 CN
http://www.erasmusmc.nl/?lang=en
Organization ID: 505701
Erasmus University Medical Center
Erasmus MC Faculty building; Wytemaweg 80
Rotterdam
Netherlands - 3015 CN
http://www.erasmusmc.nl/?lang=en
Organization ID: 505701
Personnel
- Erwin Brosens
Phone: +3107037643
Email: e.brosens@erasmusmc.nl - Maria Alves, Contact
Phone: 0031-107037643
Email: manuelaalve@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 317
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| A2M | 1 | Jul 23, 2020 |
| AHNAK | 1 | Jul 23, 2020 |
| AMBRA1 | 1 | Jun 26, 2019 |
| ATP1A3 | 1 | Jun 26, 2019 |
| ATP2C2 | 2 | Mar 25, 2016 |
| ATP6V0A1 | 1 | Jun 26, 2019 |
| C2CD4A | 1 | Jun 26, 2019 |
| CACNA1C | 1 | Jun 26, 2019 |
| CACNA1C-AS1 | 1 | Jun 26, 2019 |
| CACNB2 | 2 | Mar 25, 2016 |
| CADM2 | 1 | Mar 25, 2016 |
| CASC15 | 1 | Jul 23, 2020 |
| CCDST | 1 | Jul 23, 2020 |
| CCR9 | 1 | Nov 19, 2016 |
| CDC27 | 1 | Jun 26, 2019 |
| CDKAL1 | 1 | Mar 25, 2016 |
| CFTR | 2 | Jul 23, 2020 |
| CGNL1 | 1 | Mar 25, 2016 |
| CLMP | 2 | Jul 18, 2016 |
| CLUH | 1 | Nov 21, 2016 |
| CMIP | 1 | Jun 26, 2019 |
| CNTN5 | 2 | Mar 25, 2016 |
| COL3A1 | 1 | Jul 23, 2020 |
| CRISP2 | 1 | Jul 23, 2020 |
| CSMD1 | 2 | Mar 25, 2016 |
| CTXND1 | 1 | Jul 23, 2020 |
| DENND3 | 2 | Jun 26, 2019 |
| DEPDC1 | 1 | Jun 26, 2019 |
| DES | 1 | Jul 23, 2020 |
| DNAH12 | 1 | Jul 23, 2020 |
| DPPA5 | 1 | Jun 26, 2019 |
| DROSHA | 1 | Jun 26, 2019 |
| DSCAM | 1 | Jun 26, 2019 |
| DST | 1 | Jun 26, 2019 |
| DYNC2H1 | 1 | Nov 21, 2016 |
| EDNRB | 1 | Jun 26, 2019 |
| EDNRB-AS1 | 1 | Jun 26, 2019 |
| ENOX1 | 1 | Mar 25, 2016 |
| ETFDH | 1 | Jul 23, 2020 |
| F5 | 1 | Jun 26, 2019 |
| FHIT | 1 | Jul 23, 2020 |
| FLG | 1 | Jul 23, 2020 |
| FMN2 | 1 | Jun 26, 2019 |
| FOXF1 | 3 | Jan 10, 2020 |
| GABRG2 | 1 | Jun 26, 2019 |
| GDNF | 1 | Nov 19, 2016 |
| GFRA1 | 1 | Jun 26, 2019 |
| GLI3 | 1 | Nov 21, 2016 |
| GPC5 | 2 | Mar 25, 2016 |
| GRIK2 | 1 | Mar 25, 2016 |
| HIC2 | 1 | Jul 23, 2020 |
| IGSF3 | 1 | Jun 26, 2019 |
| IHH | 1 | Nov 19, 2016 |
| IKBKB | 1 | Jun 26, 2019 |
| INSR | 1 | Jun 26, 2019 |
| IQCF5 | 1 | Jun 26, 2019 |
| IQCF5-AS1 | 1 | Jun 26, 2019 |
| ITGB1 | 1 | Jun 26, 2019 |
| KCNA6 | 1 | Jun 26, 2019 |
| KCNN3 | 1 | Jun 26, 2019 |
| KIAA1328 | 1 | Mar 25, 2016 |
| KIFBP | 6 | Jun 26, 2019 |
| KLRG1 | 1 | Jul 23, 2020 |
| L3MBTL4 | 1 | Jul 23, 2020 |
| LINGO2 | 1 | Jul 23, 2020 |
| LMOD1 | 1 | Oct 7, 2016 |
| LOC101928335 | 1 | Jun 26, 2019 |
| LOC105378311 | 1 | Jun 26, 2019 |
| LOC107325936 | 1 | Jul 23, 2020 |
| LOC112042785 | 2 | Jul 18, 2016 |
| LOC126807401 | 1 | Jun 26, 2019 |
| LOC126860794 | 1 | Jun 26, 2019 |
| LOC130003959 | 1 | Jun 26, 2019 |
| LRBA | 1 | Nov 21, 2016 |
| LRRC4C | 1 | Mar 25, 2016 |
| LRRTM4 | 1 | Mar 25, 2016 |
| LZTFL1 | 1 | Nov 19, 2016 |
| MACROD2 | 1 | Mar 25, 2016 |
| MAN2A2 | 1 | Jun 26, 2019 |
| MBD5 | 1 | Mar 25, 2016 |
| MED15 | 1 | Jun 26, 2019 |
| MGAM2 | 1 | Jun 26, 2019 |
| MID2 | 1 | Jun 26, 2019 |
| MTUS2 | 1 | Mar 25, 2016 |
| MYBPC3 | 1 | Jun 26, 2019 |
| MYLK | 1 | Oct 6, 2016 |
| NAGS | 1 | Jun 26, 2019 |
| NAV2 | 1 | Nov 21, 2016 |
| NCKAP5 | 1 | Mar 25, 2016 |
| NOTCH1 | 1 | Jun 26, 2019 |
| NOTCH2 | 1 | Nov 21, 2016 |
| NOTCH4 | 1 | Jun 26, 2019 |
| NRG3 | 3 | Jun 26, 2019 |
| NRP2 | 1 | Nov 21, 2016 |
| NUP98 | 1 | Jun 26, 2019 |
| NXN | 1 | Mar 25, 2016 |
| OAS3 | 1 | Jun 26, 2019 |
| OR1F1 | 1 | Nov 21, 2016 |
| PACS1 | 1 | Jun 26, 2019 |
| PCDH15 | 1 | Jun 26, 2019 |
| PCDHA1 | 1 | Nov 21, 2016 |
| PCDHA10 | 1 | Nov 21, 2016 |
| PCDHA11 | 1 | Nov 21, 2016 |
| PCDHA12 | 1 | Nov 21, 2016 |
| PCDHA13 | 1 | Nov 21, 2016 |
| PCDHA2 | 1 | Nov 21, 2016 |
| PCDHA3 | 1 | Nov 21, 2016 |
| PCDHA4 | 1 | Nov 21, 2016 |
| PCDHA5 | 1 | Nov 21, 2016 |
| PCDHA6 | 1 | Nov 21, 2016 |
| PCDHA7 | 1 | Nov 21, 2016 |
| PCDHA8 | 1 | Nov 21, 2016 |
| PCDHA9 | 1 | Nov 21, 2016 |
| PCDHA@ | 1 | Nov 21, 2016 |
| PCDHAC1 | 1 | Nov 21, 2016 |
| PCDHAC2 | 1 | Nov 21, 2016 |
| PCDHACT | 1 | Nov 21, 2016 |
| PCNT | 1 | Jul 23, 2020 |
| PDE4D | 2 | Jun 26, 2019 |
| PDGFD | 1 | Mar 25, 2016 |
| PGRMC2 | 1 | Nov 21, 2016 |
| PHAX | 1 | Jun 26, 2019 |
| PHRF1 | 1 | Jun 26, 2019 |
| PLK2 | 1 | Jun 26, 2019 |
| POR | 1 | Jun 26, 2019 |
| PRKN | 1 | Mar 25, 2016 |
| PTPRD | 2 | Mar 25, 2016 |
| PTPRN2 | 1 | Mar 25, 2016 |
| RBFOX1 | 1 | Mar 25, 2016 |
| RET | 1 | Nov 19, 2016 |
| RGS7 | 1 | Mar 25, 2016 |
| RHCE | 2 | Jul 23, 2020 |
| ROBO2 | 1 | Mar 25, 2016 |
| RPGR | 1 | Jun 26, 2019 |
| SDK1 | 1 | Jul 23, 2020 |
| SERPINF1 | 1 | Nov 21, 2016 |
| SGCG | 1 | Mar 25, 2016 |
| SIPA1 | 1 | Jun 26, 2019 |
| SLC22A1 | 1 | Jun 26, 2019 |
| SLC23A2 | 1 | Mar 25, 2016 |
| SLC8A1 | 1 | Jul 23, 2020 |
| SNF8 | 1 | Jun 26, 2019 |
| STAT5A | 1 | Jun 26, 2019 |
| TBATA | 1 | Jun 26, 2019 |
| TCF4 | 1 | Jun 26, 2019 |
| TENM2 | 1 | Jun 26, 2019 |
| TENT5A | 3 | Jun 26, 2019 |
| TERT | 1 | Jun 26, 2019 |
| TFAP2B | 1 | May 13, 2022 |
| TGFB2 | 1 | Nov 21, 2016 |
| THSD7B | 1 | Mar 25, 2016 |
| TMEM108 | 1 | Mar 25, 2016 |
| TMEM165 | 1 | Jun 26, 2019 |
| VCL | 1 | Jun 26, 2019 |
| WDR13 | 1 | Jun 26, 2019 |
| XKR9 | 1 | Mar 25, 2016 |
| YWHAE | 2 | Jun 26, 2019 |
| ZEB2 | 1 | Jun 26, 2019 |
| ZNF592 | 1 | Jun 26, 2019 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Abnormal esophagus morphology | 165 | Mar 25, 2016 |
| Aganglionic megacolon | 34 | Jun 26, 2019 |
| Alveolar capillary dysplasia with pulmonary venous misalignment | 5 | Jan 10, 2020 |
| Chronic intestinal pseudoobstruction | 1 | May 13, 2022 |
| Esophageal atresia | 31 | Jun 26, 2019 |
| Goldberg-Shprintzen syndrome | 6 | Jun 26, 2019 |
| Hirschsprung disease, susceptibility to, 1 | 16 | Nov 21, 2016 |
| Intestinal pseudo-obstruction | 2 | Jul 18, 2016 |
| Megacolon | 55 | Jul 23, 2020 |
| Pyloric stenosis | 31 | Jun 26, 2019 |
| Visceral myopathy 1 | 2 | Oct 7, 2016 |