Personalized Diabetes Medicine Program (University of Maryland School of Medicine)
General information
Personnel
- Toni Pollin, Contact
Phone: 410-706-1630
Email: tpollin@medicine.umaryland.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 430
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCC8 | 12 | Feb 19, 2020 |
| AGPAT2 | 13 | Feb 19, 2020 |
| ALMS1 | 70 | Feb 19, 2020 |
| BLK | 7 | Jan 10, 2018 |
| BSCL2 | 10 | Feb 19, 2020 |
| CAV1 | 2 | Feb 19, 2020 |
| CAVIN1 | 6 | Feb 19, 2020 |
| CEL | 7 | Feb 19, 2020 |
| EIF2AK3 | 9 | Feb 19, 2020 |
| FOXP3 | 3 | Feb 19, 2020 |
| GATA6 | 8 | Feb 19, 2020 |
| GCK | 3 | Jan 10, 2018 |
| GLIS3 | 29 | Feb 19, 2020 |
| GLIS3-AS1 | 3 | Feb 19, 2020 |
| GLUD1 | 3 | Feb 19, 2020 |
| GNG3 | 1 | Feb 19, 2020 |
| HADH | 9 | Feb 19, 2020 |
| HNF1A | 10 | Feb 19, 2020 |
| HNF1B | 8 | Feb 19, 2020 |
| HNF4A | 8 | Feb 19, 2020 |
| HNRNPUL2-BSCL2 | 10 | Feb 19, 2020 |
| INSR | 11 | Feb 19, 2020 |
| KCNJ11 | 6 | Feb 19, 2020 |
| KLF11 | 8 | Jan 10, 2018 |
| LEP | 1 | Feb 19, 2020 |
| LEPR | 13 | Feb 19, 2020 |
| LMNA | 4 | Feb 19, 2020 |
| LOC122094844 | 1 | Feb 19, 2020 |
| LOC125146351 | 2 | Mar 7, 2017 |
| LOC126806252 | 5 | Feb 19, 2020 |
| LOC126859771 | 1 | Feb 19, 2020 |
| LOC127407129 | 3 | Feb 19, 2020 |
| LOC129931894 | 1 | Feb 19, 2020 |
| LOC130004254 | 1 | Feb 19, 2020 |
| LOC130004255 | 1 | Jan 10, 2018 |
| MC4R | 8 | Feb 19, 2020 |
| NEUROD1 | 2 | Feb 19, 2020 |
| PAX4 | 7 | Jan 10, 2018 |
| PDX1 | 11 | Feb 19, 2020 |
| PLIN1 | 12 | Feb 19, 2020 |
| PLUT | 3 | Feb 19, 2020 |
| PPARG | 3 | Feb 19, 2020 |
| PPP1R3A | 25 | Feb 19, 2020 |
| PTF1A | 7 | Feb 19, 2020 |
| RFX6 | 16 | Feb 19, 2020 |
| SHLD2 | 1 | Jan 10, 2018 |
| SIM1 | 7 | Feb 19, 2020 |
| SLC19A2 | 5 | Feb 19, 2020 |
| SLC2A2 | 6 | Feb 19, 2020 |
| WFS1 | 51 | Feb 19, 2020 |
| ZFP57 | 10 | Feb 19, 2020 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Monogenic diabetes | 430 | Feb 19, 2020 |