Lab Thiel (Congenital Disorders of Glycosylation) (Center for Child and Adolescent Medicine), UKL-HD
General information
Personnel
- Bianca Dimitrov, Staff
Phone: +49-6221-56-34280
Email: bianca.dimitrov@med.uni-heidelberg.de - Nastassja Himmelreich, Lab Associate Director
Phone: +49622139994
Email: nastassja.himmelreich@med.uni-heidelberg.de - Christian Thiel, Administrator
Phone: +49-6221-56-39994
Email: christian.thiel@med.uni-heidelberg.de
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 11
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| ALG3-congenital disorder of glycosylation | 4 | Feb 7, 2019 |
| ALG9 congenital disorder of glycosylation | 1 | Jun 13, 2022 |
| Immunodeficiency 47 | 1 | Aug 16, 2017 |
| MGAT2-congenital disorder of glycosylation | 4 | Feb 7, 2019 |
| PMM2-congenital disorder of glycosylation | 1 | Mar 9, 2020 |