Biochemical Genetics Department (Cyprus Institute of Neurology and Genetics)
General information
Biochemical Genetics Department
Cyprus Institute of Neurology and Genetics
6 Iroon Aveneu, Ayios Dometios
Nicosia
Cyprus - 2371
https://www.cing.ac.cy/
Organization ID: 507101
Cyprus Institute of Neurology and Genetics
6 Iroon Aveneu, Ayios Dometios
Nicosia
Cyprus - 2371
https://www.cing.ac.cy/
Organization ID: 507101
Personnel
- Anna Malekkou, Staff
Phone: +357392869
Email: annama@cing.ac.cy
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 7
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| DPYD | 1 | Oct 5, 2023 |
| GAA | 2 | May 23, 2023 |
| GALT | 1 | Oct 4, 2021 |
| GBA1 | 1 | Aug 27, 2019 |
| GCDH | 2 | Oct 11, 2021 |
| LOC106627981 | 1 | Aug 27, 2019 |
| LOC117125594 | 1 | Oct 11, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 1 | Oct 4, 2021 |
| Dihydropyrimidine dehydrogenase deficiency | 1 | Oct 5, 2023 |
| Gaucher disease type I | 1 | Aug 27, 2019 |
| Glutaric aciduria, type 1 | 2 | Oct 11, 2021 |
| Glycogen storage disease, type II | 2 | May 23, 2023 |