Center for Medical Genetics (Keio University School of Medicine), CMG
General information
Personnel
- Kenjiro Kosaki, Principal Investigator
Phone: +81-3-5363-3890
Email: kkosaki@z3.keio.jp - Fuyuki Miya, Staff
Phone: +81-3-5363-3890
Email: fmiya@keio.jp - Takako Shimura, Staff
Phone: +81-3-5363-3890
Email: ua915566@user.keio.ac.jp - Hisato Suzuki, Staff
Phone: +81-3-5363-3890
Email: hsuzuki-tuk@umin.ac.jp - Mamiko Yamada, Staff
Phone: +81-3-5363-3890
Email: mamiko318@keio.jp
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 11
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| CCP110 | 2 | Dec 29, 2023 |
| CSNK2B | 1 | Jul 7, 2017 |
| DHX9 | 1 | Jun 13, 2023 |
| ERCC8 | 1 | Dec 21, 2023 |
| LOC126806878 | 1 | Aug 3, 2017 |
| LOC126863256 | 1 | Sep 8, 2023 |
| SHH | 2 | Oct 4, 2023 |
| SNHG14 | 1 | Jul 20, 2022 |
| SNRPN | 1 | Jul 20, 2022 |
| TBL1XR1 | 1 | Aug 3, 2017 |
| TBL1XR1-AS1 | 1 | Aug 3, 2017 |
| WDR45 | 1 | Sep 8, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cockayne syndrome type 1 | 2 | Dec 21, 2023 |
| DHX9-related disorder | 1 | Jun 13, 2023 |
| Intellectual disability and seizures | 1 | Jul 7, 2017 |
| Intellectual disability, autosomal dominant 41 | 1 | Aug 3, 2017 |
| Neurodegeneration with brain iron accumulation 5 | 1 | Sep 8, 2023 |
| Prader-Willi syndrome | 1 | Jul 20, 2022 |
| See cases | 4 | Dec 29, 2023 |