Cologne Center for Genomics (Faculty of Medicine, University of Cologne)
General information
Cologne Center for Genomics
Faculty of Medicine, University of Cologne
Weyertal 115b
Cologne
Germany - 50931
https://ccg.uni-koeln.de/
Organization ID: 508304
Faculty of Medicine, University of Cologne
Weyertal 115b
Cologne
Germany - 50931
https://ccg.uni-koeln.de/
Organization ID: 508304
Personnel
- Muhammad Sajid Hussain, Principal Investigator
Phone: +49 221 47896808
Email: mhussain@uni-koeln.de
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 9
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Abnormal facial shape | 1 | Apr 14, 2022 |
| Asymmetry of the ears | 1 | Apr 14, 2022 |
| Deeply set eye | 1 | Apr 14, 2022 |
| Ectrodactyly and ectodermal dysplasia without cleft lip/palate | 1 | Nov 5, 2021 |
| Intellectual disability | 1 | Apr 14, 2022 |
| Intellectual disability-craniodigital syndrome | 1 | Apr 12, 2022 |
| Mandibular prognathia | 1 | Apr 14, 2022 |
| Neurodevelopmental disorder with hypotonia and gross motor and speech delay | 3 | Apr 5, 2023 |
| Pointed chin | 1 | Apr 14, 2022 |
| Poirier-Bienvenu neurodevelopmental syndrome | 2 | Apr 11, 2022 |
| Seizure | 1 | Apr 14, 2022 |
| Syndactyly | 1 | Apr 14, 2022 |
| Tapered finger | 1 | Apr 14, 2022 |
| Thin upper lip vermilion | 1 | Apr 14, 2022 |
| Toe clinodactyly | 1 | Apr 14, 2022 |
| Tremor, hereditary essential, 6 | 1 | Oct 20, 2021 |
| Underdeveloped nasal alae | 1 | Apr 14, 2022 |