Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement (Assistance Publique Hopitaux de Paris Sorbonne Université), UFGD
General information
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, UFGD
Assistance Publique Hopitaux de Paris Sorbonne Université
47-83 Boulevard de l'Hopital
Paris
France - 75013
https://www.cgmc-psl.fr/spip.php?rubrique17
Organization ID: 506058
Assistance Publique Hopitaux de Paris Sorbonne Université
47-83 Boulevard de l'Hopital
Paris
France - 75013
https://www.cgmc-psl.fr/spip.php?rubrique17
Organization ID: 506058
Personnel
- Jean-Madeleine de Sainte Agathe, Staff
Phone: +33142177892
Email: jean-madeleine.desainteagathe@aphp.fr - Boris Keren, Medical Director
Phone: +33142177892
Email: boris.keren@aphp.fr - Caroline Nava, Variant scientist/curator
Phone: +33142177892
Email: caroline.nava@aphp.fr
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 132
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ADNP | 3 | Jan 17, 2023 |
| ANKRD11 | 5 | Feb 27, 2026 |
| ANOS1 | 1 | Aug 1, 2017 |
| AP4S1 | 1 | Aug 1, 2017 |
| ARF1 | 10 | Mar 15, 2022 |
| ARHGEF9 | 1 | Aug 1, 2017 |
| ARID1B | 1 | Aug 1, 2017 |
| ARL6IP1 | 1 | Feb 27, 2026 |
| ATP1A3 | 2 | Aug 1, 2017 |
| ATRX | 1 | Aug 1, 2017 |
| BCL11B | 1 | Feb 27, 2026 |
| BMP4 | 1 | Feb 27, 2026 |
| CAMTA1 | 1 | Aug 1, 2017 |
| CLMP | 1 | Aug 1, 2017 |
| COG5 | 2 | Aug 1, 2017 |
| COL3A1 | 1 | Feb 27, 2026 |
| CPAMD8 | 1 | Feb 27, 2026 |
| DHDDS | 1 | Feb 27, 2026 |
| DHPS | 1 | Feb 27, 2026 |
| DYRK1A | 1 | Aug 1, 2017 |
| EEF1B2 | 1 | Sep 6, 2019 |
| EFTUD2 | 1 | Aug 1, 2017 |
| FBXO11 | 1 | Feb 27, 2026 |
| FMR1 | 1 | Feb 27, 2026 |
| FOXP1 | 2 | Feb 27, 2026 |
| FOXP2 | 1 | Aug 1, 2017 |
| GABBR2 | 1 | Feb 27, 2026 |
| GABRA2 | 1 | Feb 27, 2026 |
| GCK | 1 | Feb 27, 2026 |
| GLDN | 1 | Feb 5, 2024 |
| GNAS | 1 | Aug 1, 2017 |
| GRIA3 | 1 | Aug 1, 2017 |
| GRIN2B | 1 | Aug 1, 2017 |
| HACE1 | 1 | Feb 27, 2026 |
| HNRNPU | 1 | Aug 1, 2017 |
| HPRT1 | 1 | Aug 1, 2017 |
| IRAK1BP1 | 1 | Aug 1, 2017 |
| IRF2BPL | 1 | Feb 27, 2026 |
| KANSL1 | 1 | Feb 27, 2026 |
| KCNQ2 | 2 | Feb 27, 2026 |
| KDM5C | 1 | Aug 1, 2017 |
| KDM6A | 1 | Aug 1, 2017 |
| KIF1A | 1 | Aug 1, 2017 |
| KYAT1-SPOUT1 | 2 | Jan 30, 2025 |
| LARS2 | 2 | Aug 1, 2017 |
| LOC102724058 | 1 | Aug 1, 2017 |
| LOC126806039 | 9 | Mar 15, 2022 |
| LOC130057317 | 1 | Feb 27, 2026 |
| MED13L | 1 | Aug 1, 2017 |
| MEF2C | 1 | Feb 27, 2026 |
| MFSD8 | 2 | Aug 1, 2017 |
| MICU1 | 2 | Aug 1, 2017 |
| MIR3911 | 1 | Aug 1, 2017 |
| MNS1 | 1 | Feb 5, 2024 |
| NAA10 | 1 | Aug 1, 2017 |
| NFIX | 1 | Aug 1, 2017 |
| NRXN1 | 1 | Feb 27, 2026 |
| PAK3 | 2 | Feb 27, 2026 |
| PANK2 | 2 | Aug 1, 2017 |
| PDE2A | 1 | Jan 24, 2020 |
| PDE2A-AS2 | 1 | Jan 24, 2020 |
| PHIP | 1 | Aug 1, 2017 |
| PHOX2B | 1 | Feb 27, 2026 |
| PIGN | 1 | Feb 27, 2026 |
| POGZ | 1 | Aug 1, 2017 |
| POLR3A | 1 | Feb 27, 2026 |
| POU3F3 | 1 | Feb 27, 2026 |
| PRODH | 1 | Aug 1, 2017 |
| PRPF8 | 1 | Feb 27, 2026 |
| PTPN4 | 1 | Mar 3, 2021 |
| RABGAP1 | 1 | Feb 27, 2026 |
| RAI1 | 1 | Aug 1, 2017 |
| RNU2-2 | 1 | Feb 27, 2026 |
| RNU4-1 | 1 | Feb 27, 2026 |
| RNU4-2 | 1 | Feb 27, 2026 |
| RNU5B-1 | 1 | Feb 27, 2026 |
| SATB2 | 1 | Aug 1, 2017 |
| SCN1A | 1 | Aug 1, 2017 |
| SCN2A | 2 | Aug 1, 2017 |
| SCN8A | 1 | Aug 1, 2017 |
| SEMA6B | 2 | Feb 2, 2022 |
| SHANK1 | 1 | Feb 27, 2026 |
| SIRT4 | 1 | Feb 27, 2026 |
| SLC6A1 | 1 | Aug 1, 2017 |
| SLC6A1-AS1 | 1 | Aug 1, 2017 |
| SMS | 1 | May 7, 2019 |
| SOX5 | 2 | May 30, 2025 |
| SPOUT1 | 2 | Jan 30, 2025 |
| STXBP1 | 1 | Aug 1, 2017 |
| SYNGAP1 | 2 | Aug 1, 2017 |
| SYNGAP1-AS1 | 1 | Aug 1, 2017 |
| TAF2 | 1 | Apr 13, 2021 |
| TBC1D24 | 1 | Feb 27, 2026 |
| TCF20 | 4 | Jan 17, 2019 |
| TCF4 | 3 | Feb 27, 2026 |
| TCF7L2 | 1 | Feb 27, 2026 |
| TEX9 | 1 | Feb 5, 2024 |
| TLK2 | 1 | Feb 27, 2026 |
| TUBB4A | 1 | Feb 27, 2026 |
| UNC80 | 2 | Aug 1, 2017 |
| VRK1 | 1 | Feb 8, 2021 |
| WDR62 | 1 | Feb 27, 2026 |
| WDR74 | 1 | Feb 27, 2026 |
| YY1 | 1 | Feb 27, 2026 |
| ZC4H2 | 2 | Feb 27, 2026 |
| ZEB2 | 1 | Aug 1, 2017 |
| ZMYND11 | 2 | Feb 27, 2026 |