Pediatrics Genetics (Post Graduate Institute of Medical Education and Research), PGIMER
General information
Pediatrics Genetics, PGIMER
Post Graduate Institute of Medical Education and Research
Sector-12
Chandigarh
Chandigarh
India - 160012
http://pgimer.edu.in/PGIMER_PORTAL/PGIMERPORTAL/home.jsp
Organization ID: 507431
Post Graduate Institute of Medical Education and Research
Sector-12
Chandigarh
Chandigarh
India - 160012
http://pgimer.edu.in/PGIMER_PORTAL/PGIMERPORTAL/home.jsp
Organization ID: 507431
Personnel
- Anupriya Kaur, Staff
Phone: 9914285566
Email: [email protected] - Priyanka Srivastava, Staff
Phone: 08765350191
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 47
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCD1 | 1 | Apr 30, 2020 |
| ABHD5 | 1 | Sep 8, 2020 |
| ADAMTSL2 | 2 | Jun 11, 2021 |
| ALAD | 1 | Mar 1, 2023 |
| ANTXR2 | 1 | Feb 25, 2020 |
| ASPM | 1 | Mar 1, 2023 |
| ATP6V0A4 | 3 | Jul 11, 2024 |
| CEP63 | 1 | Mar 1, 2023 |
| CHST14 | 1 | Mar 5, 2020 |
| CPLANE1 | 1 | Mar 8, 2023 |
| CSPP1 | 1 | Jul 22, 2021 |
| CYP1B1 | 1 | Aug 31, 2023 |
| DOCK7 | 1 | Mar 1, 2023 |
| EPM2A | 1 | Mar 1, 2023 |
| EPM2A-DT | 1 | Mar 1, 2023 |
| F5 | 1 | Mar 1, 2023 |
| GAS8 | 1 | Mar 2, 2023 |
| GUCY2D | 1 | Aug 10, 2020 |
| HSD11B2 | 1 | Aug 23, 2024 |
| HSPG2 | 1 | May 17, 2021 |
| HYDIN | 1 | Mar 7, 2023 |
| IFT140 | 1 | Apr 1, 2021 |
| INPPL1 | 1 | Mar 1, 2023 |
| KATNIP | 1 | Mar 1, 2023 |
| KCNA2 | 1 | Feb 27, 2023 |
| KIF11 | 1 | Jun 25, 2021 |
| LMBRD1 | 1 | Mar 1, 2023 |
| LOC105371046 | 1 | Apr 1, 2021 |
| LOC129997381 | 1 | Mar 1, 2023 |
| MKS1 | 1 | Mar 1, 2023 |
| MYEF2 | 1 | Mar 1, 2023 |
| NEB | 1 | Mar 1, 2023 |
| NF1 | 5 | Jul 21, 2023 |
| NPR2 | 1 | Jun 18, 2020 |
| OCRL | 1 | May 19, 2021 |
| PCNT | 1 | Mar 1, 2023 |
| PKD1L1 | 1 | Mar 2, 2023 |
| PTPRQ | 1 | Mar 1, 2023 |
| SCN8A | 2 | Sep 25, 2023 |
| SLC24A5 | 1 | Mar 1, 2023 |
| SLC6A19 | 1 | Mar 1, 2023 |
| STXBP1 | 1 | Aug 25, 2023 |
| VPS13A | 1 | Mar 1, 2023 |