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: anita.rauch@medgen.uzh.ch - Paolo Zanoni, Principal Investigator
Phone: +41 44 556 3300
Email: zanoni@medgen.uzh.ch
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 39
Gene
Gene | Submissions | Last Updated |
---|---|---|
ACTA2 | 1 | Aug 9, 2022 |
ANK1 | 1 | Aug 9, 2022 |
COL4A2 | 1 | Aug 9, 2022 |
CPLANE1 | 6 | Jun 15, 2017 |
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 |
Condition
Name | Submissions | Last Updated |
---|---|---|
Acrocallosal syndrome | 6 | Jun 15, 2017 |
Alagille syndrome due to a JAG1 point mutation | 1 | Aug 9, 2022 |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 2 | Jun 15, 2017 |
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 |