Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre (University of Oxford), WCHG
General information
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre, WCHG
University of Oxford
Roosevelt Drive
Oxford
Oxfordshire
United Kingdom - OX3 7BN
https://www.well.ox.ac.uk
Organization ID: 506645
University of Oxford
Roosevelt Drive
Oxford
Oxfordshire
United Kingdom - OX3 7BN
https://www.well.ox.ac.uk
Organization ID: 506645
Personnel
- Alistair Pagnamenta, Staff
Phone: +44 (0) 1865287660
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 13
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal recessive nonsyndromic hearing loss 89 | 1 | Jan 20, 2021 |
| Global developmental delay with or without impaired intellectual development | 1 | Dec 20, 2022 |
| Intellectual disability | 2 | Apr 12, 2019 |
| Lower limb spasticity | 2 | Apr 12, 2019 |
| Microcephaly | 2 | Apr 12, 2019 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 1 | Dec 7, 2018 |
| Noonan syndrome 2 | 6 | Mar 4, 2019 |
| Rhizomelic limb shortening with dysmorphic features | 1 | Nov 28, 2022 |
| T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant | 1 | Mar 22, 2021 |