Institute of Medical Genetics (University of Zurich), IMG-UZH
General information
Institute of Medical Genetics, IMG-UZH
University of Zurich
Wagistrasse 12
CH-8952 Schlieren
Schwerzenbach
Zurich
Switzerland - 8603
http://www.medgen.uzh.ch/en.html
Organization ID: 506173
University of Zurich
Wagistrasse 12
CH-8952 Schlieren
Schwerzenbach
Zurich
Switzerland - 8603
http://www.medgen.uzh.ch/en.html
Organization ID: 506173
Personnel
- Anita Rauch, Medical Director
Phone: +41 44 556 3300
Email: [email protected] - Paolo Zanoni, Principal Investigator
Phone: +41 44 556 3300
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 59
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACTA2 | 1 | Aug 9, 2022 |
| ANK1 | 1 | Aug 9, 2022 |
| ANO4 | 7 | Apr 8, 2024 |
| COL4A2 | 1 | Aug 9, 2022 |
| CPLANE1 | 6 | Jun 15, 2017 |
| DMD | 1 | May 30, 2024 |
| DPF2 | 1 | Mar 30, 2024 |
| GUCY1A1 | 1 | Aug 9, 2022 |
| HRAS | 1 | Jan 5, 2023 |
| JAG1 | 1 | Aug 9, 2022 |
| KIF7 | 5 | Jun 15, 2017 |
| LOC129389274 | 1 | Jun 15, 2017 |
| LRRC56 | 1 | Jan 5, 2023 |
| MED13L | 2 | Jun 15, 2017 |
| NF1 | 16 | Aug 9, 2022 |
| PCNT | 1 | Aug 9, 2022 |
| SHH | 1 | May 19, 2017 |
| SPTB | 1 | Aug 9, 2022 |
| STAT3 | 1 | Aug 9, 2022 |
| ZNRF3 | 11 | Jun 9, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Acrocallosal syndrome | 6 | Jun 15, 2017 |
| Alagille syndrome due to a JAG1 point mutation | 1 | Aug 9, 2022 |
| Becker muscular dystrophy | 1 | May 30, 2024 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 2 | Jun 15, 2017 |
| Coffin-Siris syndrome 7 | 1 | Mar 30, 2024 |
| Duchenne muscular dystrophy | 1 | May 30, 2024 |
| Early infantile epileptic encephalopathy with suppression bursts | 5 | Apr 1, 2024 |
| Generalized epilepsy with febrile seizures plus | 1 | Apr 1, 2024 |
| Hereditary spherocytosis type 1 | 1 | Aug 9, 2022 |
| Hereditary spherocytosis type 2 | 1 | Aug 9, 2022 |
| Joubert syndrome 17 | 6 | Jun 15, 2017 |
| Microcephalic osteodysplastic primordial dwarfism type II | 1 | Aug 9, 2022 |
| Moyamoya disease with early-onset achalasia | 1 | Aug 9, 2022 |
| Multisystemic smooth muscle dysfunction syndrome | 1 | Aug 9, 2022 |
| Neurofibromatosis, type 1 | 16 | Aug 9, 2022 |
| Porencephaly 2 | 1 | Aug 9, 2022 |
| RASopathy | 1 | Jan 5, 2023 |
| STAT3-related early-onset multisystem autoimmune disease | 1 | Aug 9, 2022 |
| Temporal lobe epilepsy | 1 | Apr 8, 2024 |
| ZNRF3-related disorder | 11 | Jun 9, 2024 |