Wilkie Group, Clinical Genetics Lab, WIMM (University of Exeter), CG-WIMM
General information
Personnel
- Steve Twigg, Principal Investigator
Phone: +44 (0) 1865 222443
Email: stephen.twigg@imm.ox.ac.uk - Heather Verdovato Dos Santos, Contact
Phone: +44(0) 1865 222380
Email: heather.vedovatodossantos@jesus.ox.ac.uk - Laura Watts, Contact
Phone: +44 (0) 1865 222443
Email: laura.watts@ouh.nhs.uk - Andrew Wilkie, Principal Investigator
Phone: +44 (0) 1865 222443
Email: andrew.wilkie@imm.ox.ac.uk
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 21
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| DHRS3 Deficiency | 3 | Jan 22, 2025 |
| 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 |
| not specified | 2 | Jan 22, 2025 |