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 |