Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute (Kanazawa Medical University)
General information
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute
Kanazawa Medical University
1-1 Daigaku
Uchinada
Ishikawa
Japan - 920-0293
http://www.kanazawa-med.ac.jp/~souiken/
Organization ID: 507305
Kanazawa Medical University
1-1 Daigaku
Uchinada
Ishikawa
Japan - 920-0293
http://www.kanazawa-med.ac.jp/~souiken/
Organization ID: 507305
Personnel
- Yo Niida, Administrator
Phone: +81 076-286-2211
Email: [email protected] - Sumihito Togi, Lab Associate Director
Phone: +81 076-286-2211
Email: [email protected] - Hiroki Ura, Lab Associate Director
Phone: +81 076-286-2211
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 204
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ATM | 2 | Jun 21, 2020 |
| ATP7B | 2 | Mar 20, 2021 |
| C11orf65 | 1 | Jun 21, 2020 |
| COL1A1 | 5 | Oct 23, 2023 |
| COL2A1 | 2 | Oct 23, 2023 |
| COL7A1 | 1 | Oct 15, 2023 |
| FLNA | 2 | Nov 5, 2023 |
| LOC107988032 | 1 | Nov 5, 2023 |
| LOC111811965 | 1 | Apr 18, 2021 |
| MED12 | 1 | Oct 9, 2023 |
| MIR4733HG | 1 | Apr 18, 2021 |
| NF1 | 9 | Apr 18, 2021 |
| PROS1 | 1 | Nov 5, 2023 |
| SCN8A | 1 | Oct 2, 2023 |
| TSC1 | 60 | Aug 17, 2022 |
| TSC2 | 116 | Aug 6, 2022 |
| WRN | 1 | Oct 15, 2023 |
| XPC | 1 | Oct 2, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Ataxia-telangiectasia syndrome | 2 | Jun 21, 2020 |
| Blepharophimosis - intellectual disability syndrome, MKB type | 1 | Oct 9, 2023 |
| Developmental and epileptic encephalopathy, 13 | 1 | Oct 2, 2023 |
| Heterotopia, periventricular, X-linked dominant | 2 | Nov 5, 2023 |
| Neurofibromatosis, type 1 | 9 | Apr 18, 2021 |
| Osteogenesis imperfecta type I | 2 | Oct 23, 2023 |
| Osteogenesis imperfecta type III | 1 | Oct 23, 2023 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 1 | Oct 23, 2023 |
| Osteogenesis imperfecta, perinatal lethal | 1 | Oct 23, 2023 |
| Recessive dystrophic epidermolysis bullosa | 1 | Oct 15, 2023 |
| Stickler syndrome type 1 | 2 | Oct 23, 2023 |
| Thrombophilia due to protein S deficiency, autosomal dominant | 1 | Nov 5, 2023 |
| Tuberous sclerosis 1 | 60 | Aug 17, 2022 |
| Tuberous sclerosis 2 | 116 | Aug 6, 2022 |
| Werner syndrome | 1 | Oct 15, 2023 |
| Wilson disease | 2 | Mar 20, 2021 |
| Xeroderma pigmentosum, group C | 1 | Oct 2, 2023 |