Centre for Genomic and Experimental Medicine (University of Edinburgh)
General information
Centre for Genomic and Experimental Medicine
University of Edinburgh
Western General Hospital; Crewe Road
Edinburgh
Midlothian
United Kingdom - EH4 2XU
http://www.cgem.ed.ac.uk/
Organization ID: 505630
University of Edinburgh
Western General Hospital; Crewe Road
Edinburgh
Midlothian
United Kingdom - EH4 2XU
http://www.cgem.ed.ac.uk/
Organization ID: 505630
Personnel
- Tim Aitman
Phone: 01316518021
Email: tim.aitman@ed.ac.uk
Assertion criteria
Level: Assertion criteria provided
- ACMG Guidelines, 2015
- Submitter's publication
Summary of submissions to ClinVar
Total submissions: 97
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| CDCA7L | 1 | May 27, 2020 |
| COL1A1 | 2 | Aug 30, 2017 |
| COL3A1 | 4 | Aug 30, 2017 |
| COL5A1 | 1 | Aug 30, 2017 |
| COL5A2 | 2 | Aug 30, 2017 |
| DNAAF4 | 3 | May 27, 2020 |
| DNAAF4-CCPG1 | 3 | May 27, 2020 |
| DNAH11 | 3 | May 27, 2020 |
| DNAH5 | 5 | May 27, 2020 |
| EVC2 | 2 | Dec 9, 2015 |
| FBN1 | 21 | Aug 30, 2017 |
| FRAS1 | 2 | Dec 9, 2015 |
| LOC108903148 | 1 | Oct 7, 2016 |
| LOC113939944 | 1 | Aug 30, 2017 |
| LOC130057019 | 1 | Aug 30, 2017 |
| MYH11 | 3 | Aug 30, 2017 |
| MYLK | 2 | Aug 30, 2017 |
| MYLK-AS1 | 1 | Aug 30, 2017 |
| NDE1 | 2 | Aug 30, 2017 |
| NEK1 | 18 | Feb 15, 2024 |
| OPTN | 4 | Oct 7, 2016 |
| SLC2A10 | 2 | Aug 30, 2017 |
| SOD1 | 5 | Oct 7, 2016 |
| TARDBP | 3 | Oct 7, 2016 |
| TBK1 | 7 | Oct 7, 2016 |
| TBX20 | 3 | Aug 18, 2017 |
| TGFBR1 | 2 | Aug 30, 2017 |
| TGFBR2 | 3 | Aug 30, 2017 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Ellis-van Creveld syndrome | 2 | Dec 9, 2015 |
| Familial thoracic aortic aneurysm and aortic dissection | 42 | Aug 30, 2017 |
| Fraser syndrome 1 | 2 | Dec 9, 2015 |
| Hypoplastic left heart syndrome | 1 | Aug 18, 2017 |
| Hypoplastic right heart syndrome | 1 | Aug 18, 2017 |
| Motor neuron disease | 37 | Feb 15, 2024 |
| Primary ciliary dyskinesia | 11 | May 27, 2020 |
| Wolff-Parkinson-White pattern | 1 | Aug 18, 2017 |