Department of Medical Genetics (Sanjay Gandhi Postgraduate Institute Of Medical Sciences), SGPGIMS
General information
Department of Medical Genetics, SGPGIMS
Sanjay Gandhi Postgraduate Institute Of Medical Sciences
Raebareli road
Lucknow
Uttar Pradesh
India - 226014
http://sgpgi.ac.in/
Organization ID: 505943
Sanjay Gandhi Postgraduate Institute Of Medical Sciences
Raebareli road
Lucknow
Uttar Pradesh
India - 226014
http://sgpgi.ac.in/
Organization ID: 505943
Personnel
- Shubha Phadke, Lab Director
Phone: 09839220199
Email: shubharaophadke@gmail.com - Kausik Mandal, Principal Investigator
Phone: 8765974049
Email: mandal.kausik@gmail.com - Priyanka Srivastava, Principal Investigator
Phone: 8765350191
Email: srivastavapriy@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 195
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AIMP1 | 1 | Apr 16, 2022 |
| AIMP2 | 1 | Oct 27, 2020 |
| ANKLE2 | 1 | Nov 2, 2021 |
| ASPM | 1 | Apr 5, 2021 |
| ATP6V0A2 | 1 | Feb 9, 2024 |
| ATRIP | 2 | Nov 2, 2021 |
| ATRIP-TREX1 | 2 | Nov 2, 2021 |
| BBIP1 | 1 | May 3, 2019 |
| BBS1 | 1 | Aug 7, 2019 |
| BBS10 | 1 | May 11, 2019 |
| BBS12 | 1 | May 7, 2019 |
| BBS4 | 1 | Aug 7, 2019 |
| C2orf69 | 1 | Apr 7, 2023 |
| CASK | 1 | Apr 16, 2022 |
| CDK5 | 1 | Jan 8, 2024 |
| CENPF | 1 | Apr 5, 2021 |
| CFAP418 | 2 | Aug 8, 2019 |
| CFAP418-AS1 | 1 | Aug 8, 2019 |
| CHST3 | 3 | Dec 19, 2017 |
| CIT | 3 | Apr 5, 2021 |
| CLASP1 | 2 | Dec 29, 2020 |
| CLN6 | 1 | Apr 17, 2022 |
| COASY | 1 | Oct 26, 2020 |
| COL4A1 | 1 | Oct 28, 2020 |
| COL6A2 | 1 | Feb 9, 2024 |
| COL6A3 | 1 | Feb 9, 2024 |
| COL7A1 | 10 | Apr 27, 2021 |
| CTSK | 10 | Oct 23, 2020 |
| DCTN2 | 1 | Dec 30, 2021 |
| DEAF1 | 1 | Apr 16, 2022 |
| DES | 1 | Feb 9, 2024 |
| DOK7 | 2 | Dec 12, 2022 |
| DVL3 | 1 | May 7, 2019 |
| ECEL1 | 2 | May 11, 2019 |
| EPG5 | 1 | Apr 20, 2022 |
| ERCC6 | 2 | Dec 30, 2020 |
| ERMARD | 1 | Dec 30, 2021 |
| FAR1 | 1 | Mar 22, 2023 |
| FBLN5 | 1 | Feb 9, 2024 |
| FBXO11 | 1 | Oct 18, 2021 |
| FLNB | 1 | Feb 9, 2024 |
| GALK1 | 1 | Mar 2, 2021 |
| GAPDH | 1 | Dec 30, 2020 |
| GLI3 | 1 | May 12, 2019 |
| GLRA1 | 1 | Jan 2, 2018 |
| HMBS | 3 | Oct 18, 2023 |
| IDS | 54 | Mar 12, 2021 |
| ITGB4 | 1 | Mar 2, 2021 |
| LGI4 | 1 | Oct 12, 2018 |
| LMNA | 1 | Feb 9, 2024 |
| LOC105371520 | 1 | Apr 16, 2022 |
| LOC106050102 | 21 | Feb 24, 2021 |
| LOC122889011 | 1 | Feb 9, 2024 |
| LOC130000784 | 1 | Aug 8, 2019 |
| LOC130068781 | 1 | Feb 19, 2021 |
| MECP2 | 1 | Dec 30, 2020 |
| MFN2 | 1 | Feb 9, 2024 |
| MINPP1 | 1 | Oct 20, 2021 |
| MSH6 | 1 | Oct 18, 2021 |
| MTHFR | 3 | Oct 15, 2021 |
| NALCN | 1 | Sep 25, 2021 |
| NCAPD2 | 1 | Dec 30, 2020 |
| NFIX | 2 | May 7, 2019 |
| NIPBL | 1 | Apr 16, 2022 |
| NPC1 | 2 | Apr 17, 2022 |
| NPR2 | 5 | Jan 10, 2017 |
| ORC1 | 1 | Oct 27, 2020 |
| PC | 1 | Jan 2, 2018 |
| PCNT | 3 | Oct 26, 2020 |
| PEX7 | 1 | Nov 22, 2020 |
| PGBD3 | 1 | Dec 30, 2020 |
| PLA2G6 | 1 | Feb 9, 2024 |
| PLOD1 | 1 | Feb 9, 2024 |
| PNKP | 1 | Oct 20, 2021 |
| PNPLA8 | 1 | Dec 29, 2021 |
| POLR3B | 1 | Apr 16, 2022 |
| POMGNT1 | 1 | Apr 16, 2022 |
| PQBP1 | 1 | Dec 30, 2020 |
| PSAP | 1 | Apr 16, 2022 |
| PYCR1 | 1 | Feb 9, 2024 |
| RAB3GAP1 | 1 | Sep 26, 2017 |
| RNASEH2A | 2 | Apr 17, 2023 |
| RNU4ATAC | 2 | Dec 29, 2020 |
| ROR2 | 2 | May 7, 2019 |
| SLC13A5 | 1 | Apr 5, 2021 |
| SLC2A2 | 1 | Oct 30, 2017 |
| SNAP29 | 1 | Dec 30, 2020 |
| SPAG8 | 1 | Jan 10, 2017 |
| TBX5 | 1 | May 1, 2019 |
| TCF4 | 1 | Oct 26, 2020 |
| TENM3 | 2 | Jan 5, 2018 |
| THSD1 | 1 | Apr 12, 2023 |
| TMEM107 | 1 | Apr 16, 2022 |
| TMTC3 | 1 | Feb 9, 2024 |
| TPM3 | 1 | Feb 9, 2024 |
| TRAPPC9 | 1 | Oct 24, 2020 |
| TREX1 | 1 | Nov 2, 2021 |
| TRIT1 | 2 | Oct 20, 2021 |
| TRPS1 | 1 | May 11, 2019 |
| TUBA1A | 1 | Dec 28, 2020 |
| TYMP | 2 | Sep 29, 2017 |
| UBE3B | 1 | Apr 16, 2022 |
| UMOD | 1 | Nov 9, 2017 |
| VARS1 | 2 | Dec 31, 2020 |
| VIPAS39 | 1 | May 7, 2019 |
| VPS33B | 1 | May 7, 2019 |
| WDR62 | 1 | Oct 28, 2020 |
| ZC4H2 | 1 | Apr 16, 2022 |
| ZRANB3 | 1 | Sep 26, 2017 |