Houlden Lab (UCL Institute of Neurology), UCL_ION
General information
Houlden Lab, UCL_ION
UCL Institute of Neurology
London
United Kingdom
http://neurogenetics.co.uk/
Organization ID: 508188
UCL Institute of Neurology
London
United Kingdom
http://neurogenetics.co.uk/
Organization ID: 508188
Personnel
- Stephanie Efthymiou, Staff
Phone: 02034484069
Email: stephanie.efthymiou@gmail.com - Clarissa Rocca, Staff
Phone: 020 3456 7890
Email: clarissa.rocca.19@ucl.ac.uk
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 54
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Combined oxidative phosphorylation defect type 21 | 17 | Jan 24, 2023 |
| Developmental and epileptic encephalopathy, 76 | 18 | Apr 3, 2023 |
| Hereditary spastic paraplegia 47 | 3 | Jan 25, 2022 |
| Intellectual developmental disorder with or without peripheral neuropathy | 1 | Jun 23, 2023 |
| Intellectual developmental disorder with severe speech and ambulation defects | 1 | Apr 3, 2023 |
| LETM1-associated clinical spectrum with predominant nervous system involvement | 10 | Nov 1, 2021 |
| See cases | 4 | Aug 23, 2021 |