Reutter Lab, Institute of Human Genetics (University Hospital Bonn), RL-IHG
General information
Personnel
- Alina Christine Hilger, Staff
Phone: 49015158233103
Email: s4alhilg@uni-bonn.de - Valerie Weitensteiner, Informatics staff
Phone: 004915731336060
Email: s4vaweit@uni-bonn.de - Luca Schierbaum, Staff
Phone: +491639158686
Email: s4luschi@uni-bonn.de - Johanna Magdalena Schmidt, Staff
Phone: +4915789050761
Email: magdalena.schmidt@ukbonn.de - Rong Zhang, Staff
Phone: +492286885419
Email: rongzhang@uni-bonn.de
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 31
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACTB | 1 | Sep 18, 2016 |
| AGMO | 1 | Mar 3, 2017 |
| BAZ1A | 1 | Sep 18, 2016 |
| BNC2 | 2 | Mar 25, 2019 |
| CDH13 | 1 | Mar 3, 2017 |
| CNTNAP2 | 1 | Mar 3, 2017 |
| DLG3 | 1 | Sep 18, 2016 |
| FOXF1 | 1 | Apr 26, 2015 |
| LINC02201 | 1 | Aug 18, 2021 |
| LOC101927357 | 1 | Aug 18, 2021 |
| MGC32805 | 1 | Aug 18, 2021 |
| NBAS | 2 | Sep 18, 2016 |
| PPIC | 1 | Aug 18, 2021 |
| PRDM6 | 1 | Aug 18, 2021 |
| SCN9A | 1 | Sep 18, 2016 |
| SNCAIP | 1 | Aug 18, 2021 |
| SNX2 | 1 | Aug 18, 2021 |
| SNX24 | 1 | Aug 18, 2021 |
| ZIC3 | 1 | Apr 26, 2015 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Baraitser-Winter syndrome 1 | 1 | Sep 18, 2016 |
| Infantile liver failure syndrome 2 | 1 | Sep 18, 2016 |
| Intellectual disability, X-linked 90 | 1 | Sep 18, 2016 |
| Lower Urinary Tract Obstruction | 2 | Mar 25, 2019 |
| Lower urinary tract obstruction, congenital | 1 | Aug 18, 2021 |
| Primary erythromelalgia | 1 | Sep 18, 2016 |
| Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome | 1 | Sep 18, 2016 |
| VACTERL association, X-linked, with or without hydrocephalus | 1 | Apr 26, 2015 |
| VATER association | 21 | Mar 3, 2017 |
| VATER/VACTERL association with CNS malformations | 1 | Sep 18, 2016 |