Dept. of Evolution and Genomic Sciences (University of Manchester)
General information
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 7
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| HARS1 | 1 | Apr 23, 2019 |
| HARS2 | 4 | Apr 23, 2019 |
| LOC119407423 | 1 | Apr 23, 2019 |
| PRORP | 3 | May 2, 2019 |
| PRORP-PSMA6 | 3 | May 2, 2019 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Diffuse white matter abnormalities | 2 | May 2, 2019 |
| Feeding difficulties | 2 | May 2, 2019 |
| Global developmental delay | 2 | May 2, 2019 |
| Hypertonia | 2 | May 2, 2019 |
| Microcephaly | 2 | May 2, 2019 |
| Perrault syndrome 1 | 1 | May 2, 2019 |
| Persistent lactic acidosis | 2 | May 2, 2019 |
| Sensorineural hearing loss disorder | 4 | Apr 23, 2019 |