UCL Queen Square Institute of Neurology (University College London)
General information
Personnel
- William Macken, Staff
Phone: +447378270351
Email: William.macken@nhs.net
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 2
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| COPB1 | 2 | Feb 3, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cataract | 2 | Feb 3, 2021 |
| Immunodeficiency | 1 | Feb 3, 2021 |
| Intellectual disability, severe | 2 | Feb 3, 2021 |
| Microcephaly | 2 | Feb 3, 2021 |