NYU Undiagnosed Diseases Program (NYU School of Medicine), NYU-UDP
General information
Personnel
- Gilad Evrony, Principal Investigator
Phone: 2122638180
Email: [email protected] - Emma Mizrahi-Powell, Genetic Counselor
Phone: 2122638180
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 9
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| CLCN7 | 1 | Mar 18, 2020 |
| CSF1R | 1 | Feb 1, 2024 |
| GLDC | 1 | Nov 1, 2024 |
| HNRNPK | 1 | Mar 5, 2020 |
| HNRNPK-AS1 | 1 | Mar 5, 2020 |
| ITGA3 | 1 | Jan 14, 2021 |
| LOC129390683 | 1 | Oct 23, 2024 |
| MEGF8 | 1 | Jan 14, 2021 |
| SLC12A6 | 2 | Oct 23, 2024 |
| TUBB2A | 1 | Jun 24, 2022 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Agenesis of the corpus callosum with peripheral neuropathy | 2 | Oct 23, 2024 |
| Au-Kline syndrome | 1 | Mar 5, 2020 |
| Autosomal recessive osteopetrosis 4 | 1 | Mar 18, 2020 |
| CSF1R-Related Adult-Onset Leukoencephalopathy | 1 | Feb 1, 2024 |
| Complex cortical dysplasia with other brain malformations 5 | 1 | Jun 24, 2022 |
| Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | 1 | Jan 14, 2021 |
| Glycine encephalopathy 1 | 1 | Nov 1, 2024 |
| MEGF8-related Carpenter syndrome | 1 | Jan 14, 2021 |