Pediatric Genomics Discovery Program (Yale University)
General information
Pediatric Genomics Discovery Program
Yale University
333 Cedar Street - LCI305
New Haven
Connecticut
United States - 06520
https://www.yalemedicine.org/departments/pediatric-genomics/
Organization ID: 506499
Yale University
333 Cedar Street - LCI305
New Haven
Connecticut
United States - 06520
https://www.yalemedicine.org/departments/pediatric-genomics/
Organization ID: 506499
Personnel
- Lauren Jeffries, Coordinator
Phone: 2037855816
Email: lauren.jeffries@yale.edu - Weizhen Ji, Informatics staff
Phone: 2037855816
Email: weizhen.ji@yale.edu - Saquib Lakhani, Medical Director
Phone: 2037855816
Email: saquib.lakhani@yale.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 18
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Ataxia-telangiectasia syndrome | 2 | Mar 23, 2021 |
| Bohring-Opitz-like syndrome | 1 | Oct 31, 2018 |
| CHARGE association | 1 | Apr 5, 2024 |
| Cardiospondylocarpofacial syndrome | 1 | Aug 29, 2019 |
| Ciliopathy | 1 | Mar 27, 2024 |
| Fetal akinesia deformation sequence 1 | 2 | Feb 24, 2020 |
| Glaucoma 1, open angle, A | 1 | Apr 16, 2019 |
| Intellectual disability | 2 | Feb 24, 2020 |
| Long QT syndrome 2 | 1 | Mar 27, 2024 |
| Lower limb muscle weakness | 1 | Feb 24, 2020 |
| MIRAGE syndrome | 1 | Mar 7, 2022 |
| PERCHING syndrome | 1 | Oct 31, 2018 |
| Progressive muscle weakness | 1 | Feb 24, 2020 |
| Pulmonary hypoplasia | 2 | Feb 8, 2019 |
| Severe lactic acidosis | 1 | Oct 26, 2018 |