Neurogenomics Lab (Neuroscience Institute, University Of Cape Town), UCT NRG
General information
Neurogenomics Lab, UCT NRG
Neuroscience Institute, University Of Cape Town
Groote Schuur Hospital, Main Road, Observatory
Cape Town
Western Cape
South Africa - 7925
http://www.neuroscience.uct.ac.za
Organization ID: 508824
Neuroscience Institute, University Of Cape Town
Groote Schuur Hospital, Main Road, Observatory
Cape Town
Western Cape
South Africa - 7925
http://www.neuroscience.uct.ac.za
Organization ID: 508824
Personnel
- Melissa Nel, Principal Investigator
Phone: +27836438393
Email: melissa.nel@uct.ac.za
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 41
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ADPRS | 1 | Apr 3, 2024 |
| ALDH18A1 | 2 | Jun 13, 2023 |
| ANXA11 | 1 | May 29, 2023 |
| ATL1 | 1 | Jun 12, 2023 |
| ATM | 1 | Jun 12, 2023 |
| ATP1A1 | 1 | Apr 12, 2023 |
| ATP1A1-AS1 | 1 | Apr 12, 2023 |
| C17orf107 | 1 | Apr 10, 2024 |
| CAPN3 | 3 | Apr 2, 2024 |
| CHRNE | 1 | Apr 10, 2024 |
| CLCN1 | 2 | Nov 22, 2023 |
| CYP7B1 | 2 | Jun 13, 2023 |
| DES | 2 | Mar 28, 2024 |
| GAN | 2 | Jun 12, 2023 |
| GJB1 | 1 | Jun 12, 2023 |
| KIF1A | 2 | Jun 12, 2023 |
| LOC126862115 | 1 | Mar 8, 2024 |
| MFN2 | 4 | Dec 1, 2023 |
| MORC2 | 1 | Jun 12, 2023 |
| MPV17 | 2 | Jun 13, 2023 |
| MPZ | 1 | Apr 12, 2023 |
| PCYT2 | 1 | Aug 15, 2023 |
| PSEN1 | 1 | Jun 12, 2023 |
| RFT1 | 1 | Jun 13, 2023 |
| SERAC1 | 1 | Mar 8, 2024 |
| SPAST | 1 | Jun 13, 2023 |
| SPG11 | 3 | Apr 3, 2024 |
| SPG7 | 1 | Jun 12, 2023 |
| VWA1 | 2 | Dec 1, 2023 |