Manchester Centre for Genomic Medicine (The University of Manchester)
General information
Manchester Centre for Genomic Medicine
The University of Manchester
Manchester
United Kingdom - m139wl
https://www.mangen.co.uk/
Organization ID: 507166
The University of Manchester
Manchester
United Kingdom - m139wl
https://www.mangen.co.uk/
Organization ID: 507166
Personnel
- Omamah Jiman, Staff
Phone: 01612763564
Email: [email protected] - Rachel Taylor, Principal Investigator
Phone: 01612763564
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 11
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| HPSE2 | 5 | Jun 7, 2022 |
| PRORP | 6 | Sep 23, 2021 |
| PRORP-PSMA6 | 6 | Sep 23, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Childhood onset sensorineural hearing impairment | 4 | Sep 23, 2021 |
| Lactic acidosis | 2 | Sep 23, 2021 |
| Leukoencephalopathy | 3 | Sep 23, 2021 |
| Ochoa syndrome | 5 | Jun 7, 2022 |
| Perrault syndrome 1 | 1 | Sep 23, 2021 |