NYU Undiagnosed Diseases Program (NYU School of Medicine), NYU-UDP
General information
Personnel
- Gilad Evrony, Principal Investigator
Phone: 2122638180
Email: g.evrony@gmail.com - Emma Mizrahi-Powell, Genetic Counselor
Phone: 2122638180
Email: emma.mizrahi-powell@nyulangone.org
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 6
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| 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 |
| MEGF8-related Carpenter syndrome | 1 | Jan 14, 2021 |
| Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | 1 | Jan 14, 2021 |