Wilkie Group, Clinical Genetics Lab, WIMM (University of Oxford), CG-WIMM
General information
Personnel
- Steve Twigg, Principal Investigator
Phone: +44 (0) 1865 222443
Email: [email protected] - Laura Watts, Contact
Phone: +44 (0) 1865 222443
Email: [email protected] - Andrew Wilkie, Principal Investigator
Phone: +44 (0) 1865 222443
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 16
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| MEGF8 | 10 | Apr 5, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| MEGF8-related Carpenter syndrome | 10 | Apr 5, 2024 |
| Macrocephaly | 1 | Apr 19, 2021 |
| Syndromic craniosynostosis | 2 | Apr 19, 2021 |
| Syndromic intellectual disability | 3 | Apr 19, 2021 |