Medical Genetics Research Center (Mashhad University Of Medical Sciences), MGRC
General information
Personnel
- Mahmoud Ghanei, Staff
Phone: 00989155328434
Email: ghaneiam961@mums.ac.ir - Tayebeh Hamzehlouei, Principal Investigator
Phone: 00989373812663
Email: hamzehloieT@mums.ac.ir - Seyedeh Helia Sadat Fatemi, Contact
Phone: 00989150076936
Email: sadatfatemih971@mums.ac.ir
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 5
Gene
Gene | Submissions | Last Updated |
---|---|---|
CTSC | 1 | Apr 29, 2022 |
LOC129992304 | 1 | Apr 24, 2022 |
LOC130006765 | 1 | May 1, 2022 |
PTS | 1 | May 1, 2022 |
QDPR | 3 | May 1, 2022 |
Condition
Name | Submissions | Last Updated |
---|---|---|
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 1 | May 1, 2022 |
Dihydropteridine reductase deficiency | 3 | May 1, 2022 |
Papillon-Lefèvre syndrome | 1 | Apr 29, 2022 |