Department of Paediatric Medicine (Post Graduation Institute of Medical Education and Research), DPM-PGIMER
General information
Department of Paediatric Medicine, DPM-PGIMER
Post Graduation Institute of Medical Education and Research
Sector 12
Chandigarh
Chandigarh
India - 160012
http://pgimer.edu.in/
Organization ID: 506493
Post Graduation Institute of Medical Education and Research
Sector 12
Chandigarh
Chandigarh
India - 160012
http://pgimer.edu.in/
Organization ID: 506493
Personnel
- Shalini Dhiman, Staff
Phone: 8219060996
Email: shalinidhiman622@gmail.com - Inusha Panigrahi, Staff
Phone: 7087008319
Email: inupan@yahoo.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 5
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Coffin-Siris syndrome | 1 | Jun 9, 2021 |
| Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | 1 | Jun 9, 2021 |
| Osteogenesis imperfecta type 15 | 1 | May 8, 2020 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 1 | May 30, 2020 |
| Sotos syndrome | 1 | May 8, 2020 |