Centre for Translational Omics (University College London)
General information
Centre for Translational Omics
University College London
30 Guilford Street
London
United Kingdom - WC1N 1EH
http://www.ucl.ac.uk/ich/research/genetics-genomic-medicine/gosgene
Organization ID: 505378
University College London
30 Guilford Street
London
United Kingdom - WC1N 1EH
http://www.ucl.ac.uk/ich/research/genetics-genomic-medicine/gosgene
Organization ID: 505378
Personnel
- Hywel Williams, Staff
Phone: +44 2078288726
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 14
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| CHARGE syndrome | 1 | Jun 12, 2018 |
| Dejerine-Sottas disease | 1 | Mar 5, 2015 |
| Drash syndrome | 1 | Jun 12, 2018 |
| Ehlers-Danlos syndrome, type 4 | 1 | Jun 12, 2018 |
| Facial dysmorphism-immunodeficiency-livedo-short stature syndrome | 2 | Jun 12, 2018 |
| Hypoparathyroidism-retardation-dysmorphism syndrome | 1 | Jun 12, 2018 |
| Joubert syndrome 9 | 1 | Jun 12, 2018 |
| Mitochondrial DNA depletion syndrome 8a | 2 | Jun 12, 2018 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 1 | Jun 12, 2018 |
| Nephrotic syndrome, type 4 | 1 | Jun 12, 2018 |
| Non-ketotic hyperglycinemia | 1 | Jun 12, 2018 |
| Sotos syndrome | 1 | Jun 12, 2018 |
| Suxamethonium response - slow metabolism | 1 | Jun 12, 2018 |