Center for Molecular Medicine (Children’s Hospital of Fudan University), CMM-CHFU
General information
Center for Molecular Medicine, CMM-CHFU
Children’s Hospital of Fudan University
399 Wanyuan Road, Minhang District
Shanghai
Shanghai
China - 200032
http://ch.shmu.edu.cn/
Organization ID: 506025
Children’s Hospital of Fudan University
399 Wanyuan Road, Minhang District
Shanghai
Shanghai
China - 200032
http://ch.shmu.edu.cn/
Organization ID: 506025
Personnel
- Yifeng Ding, Staff
Phone: +86-18018504363
Email: [email protected] - Qi Ni, Staff
Phone: +86-21-64931016
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 234
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABAT | 1 | Feb 8, 2022 |
| ALPL | 2 | Jul 9, 2020 |
| AMPD2 | 2 | Feb 8, 2022 |
| AMT | 1 | Jul 9, 2020 |
| BCL11B | 2 | May 15, 2022 |
| BCOR | 1 | Oct 12, 2021 |
| BICRA | 5 | Apr 19, 2023 |
| BRAF | 1 | Feb 8, 2022 |
| BTD | 1 | Mar 8, 2022 |
| CAST | 1 | Jan 25, 2021 |
| CBS | 2 | Jun 6, 2023 |
| CCDC39 | 1 | Jul 9, 2020 |
| CD40LG | 1 | Mar 4, 2020 |
| CHD7 | 2 | Oct 12, 2021 |
| COG6 | 2 | Mar 4, 2020 |
| COL4A1 | 1 | Feb 8, 2022 |
| CPT2 | 2 | Mar 4, 2020 |
| CREBBP | 8 | Oct 12, 2021 |
| CYBB | 1 | Mar 4, 2020 |
| DNAH11 | 1 | Jul 9, 2020 |
| DNAH5 | 1 | Jul 9, 2020 |
| DUSP29 | 2 | Feb 8, 2022 |
| EARS2 | 1 | Mar 4, 2020 |
| EBF3 | 4 | Aug 20, 2022 |
| EHMT1 | 1 | Mar 8, 2022 |
| EPS8 | 2 | Aug 18, 2021 |
| ERBB3 | 1 | Jul 9, 2020 |
| EVC | 1 | Oct 12, 2021 |
| FBP1 | 8 | Sep 18, 2023 |
| FIG4 | 2 | Oct 12, 2021 |
| FOXC2 | 1 | Mar 4, 2020 |
| FOXC2-AS1 | 1 | Mar 4, 2020 |
| GAA | 1 | Mar 4, 2020 |
| GALC | 3 | Aug 18, 2024 |
| GATA3 | 1 | Oct 23, 2019 |
| GJB2 | 2 | Mar 8, 2022 |
| GLDC | 1 | Feb 8, 2022 |
| HSALR1 | 2 | Oct 12, 2021 |
| IFNGR1 | 2 | Mar 4, 2020 |
| IL10RA | 3 | Mar 22, 2021 |
| IL7R | 1 | Mar 4, 2020 |
| IVD | 1 | Jul 9, 2020 |
| KAT6B | 2 | Feb 8, 2022 |
| KCNQ2 | 31 | Feb 8, 2022 |
| KMT2D | 1 | Oct 12, 2021 |
| L1CAM | 1 | Feb 8, 2022 |
| LIAS | 2 | Jul 9, 2020 |
| LIG4 | 1 | Jul 9, 2020 |
| LOC101929710 | 1 | Jan 25, 2021 |
| LOC112552175 | 1 | Feb 8, 2022 |
| LOC129390683 | 1 | Feb 8, 2022 |
| LOC130056217 | 1 | Mar 4, 2020 |
| LOC130068460 | 1 | Aug 31, 2021 |
| LOXHD1 | 6 | Oct 9, 2020 |
| LZTR1 | 1 | Jul 9, 2020 |
| MAGEL2 | 8 | May 20, 2021 |
| MAGT1 | 4 | Aug 31, 2021 |
| MAP2K1 | 1 | Feb 8, 2022 |
| MEA1 | 6 | May 31, 2024 |
| MTOR | 2 | Feb 8, 2022 |
| MUSK | 4 | Sep 25, 2022 |
| NDUFA11 | 2 | Feb 8, 2022 |
| NF1 | 1 | Feb 8, 2022 |
| NIPBL | 1 | Mar 4, 2020 |
| NKX2-5 | 1 | Oct 12, 2021 |
| NTRK1 | 1 | Jul 9, 2020 |
| OSGEP | 1 | May 14, 2022 |
| PACS2 | 1 | Jul 9, 2020 |
| PAH | 8 | Mar 27, 2019 |
| PAK3 | 1 | Aug 29, 2019 |
| PCCA | 2 | Mar 4, 2020 |
| PCCB | 1 | Jul 9, 2020 |
| PCSK1 | 1 | Jan 25, 2021 |
| PDHA1 | 1 | Feb 8, 2022 |
| PEX1 | 2 | Mar 4, 2020 |
| PIEZO1 | 4 | Oct 12, 2021 |
| PNPO | 1 | Feb 8, 2022 |
| POGZ | 1 | Oct 12, 2021 |
| PPP2R1A | 5 | Apr 19, 2023 |
| PPP2R5D | 12 | May 31, 2024 |
| PPP3CA | 1 | Mar 16, 2018 |
| PREPL | 1 | Sep 23, 2019 |
| PTEN | 1 | Feb 8, 2022 |
| RAB11B | 1 | Feb 8, 2022 |
| RAF1 | 1 | Jul 9, 2020 |
| RECQL4 | 1 | Oct 12, 2021 |
| RPGRIP1L | 2 | Jul 30, 2021 |
| RRM2B | 2 | Mar 4, 2020 |
| RYR1 | 1 | Jul 9, 2020 |
| SCN2A | 3 | Jul 9, 2020 |
| SCN5A | 1 | Jul 9, 2020 |
| SERAC1 | 1 | Mar 4, 2020 |
| SFTPB | 1 | Jul 9, 2020 |
| SH2D1A | 1 | Mar 26, 2024 |
| SLC12A6 | 2 | Feb 8, 2022 |
| SLC25A20 | 2 | Mar 4, 2020 |
| SLC27A4 | 1 | Jul 9, 2020 |
| SLC34A3 | 1 | Oct 23, 2019 |
| SMARCA4 | 10 | Aug 30, 2021 |
| SOX5 | 1 | Dec 26, 2022 |
| STXBP1 | 1 | Mar 4, 2020 |
| TBC1D24 | 2 | Feb 8, 2022 |
| TBX2 | 1 | Jul 9, 2020 |
| TBX5 | 1 | Oct 12, 2021 |
| TCIRG1 | 2 | Mar 4, 2020 |
| TH | 2 | Feb 8, 2022 |
| TSC2 | 3 | Feb 8, 2022 |
| TUBA1A | 1 | Feb 8, 2022 |