Rare Disease Genomics Group (St George's University of London)
General information
Rare Disease Genomics Group
St George's University of London
Cranmer Terrace
London
United Kingdom - SW17 0RE
https://www.sgul.ac.uk/profiles/laura-southgate
Organization ID: 509447
St George's University of London
Cranmer Terrace
London
United Kingdom - SW17 0RE
https://www.sgul.ac.uk/profiles/laura-southgate
Organization ID: 509447
Personnel
- Rajiv Machado, Variant scientist/curator
Phone: n/a
Email: rmachado@sgul.ac.uk - Laura Southgate, Principal Investigator
Phone: +442087252621
Email: lasouthg@sgul.ac.uk
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 448
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Familial pulmonary capillary hemangiomatosis | 19 | Aug 25, 2015 |
| Primary pulmonary hypertension | 1 | Feb 15, 2024 |
| Pulmonary arterial hypertension associated with congenital heart disease | 6 | Aug 25, 2015 |
| Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia | 30 | Aug 25, 2015 |
| Pulmonary hypertension, primary, 1 | 386 | Aug 25, 2015 |
| Pulmonary hypertension, primary, 3 | 1 | Aug 25, 2015 |
| Pulmonary hypertension, primary, 4 | 1 | Aug 25, 2015 |
| Pulmonary hypertension, primary, dexfenfluramine-associated | 3 | Aug 25, 2015 |
| Pulmonary venoocclusive disease 1 | 1 | Aug 25, 2015 |