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: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 51
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ADPRS | 1 | May 24, 2024 |
| ALDH18A1 | 2 | May 24, 2024 |
| ANXA11 | 1 | May 24, 2024 |
| ATL1 | 1 | May 24, 2024 |
| ATM | 1 | May 24, 2024 |
| ATP1A1 | 1 | May 24, 2024 |
| ATP1A1-AS1 | 1 | May 24, 2024 |
| C17orf107 | 1 | May 24, 2024 |
| CAPN3 | 3 | May 24, 2024 |
| CHRNE | 1 | May 24, 2024 |
| CLCN1 | 2 | May 24, 2024 |
| CYP7B1 | 2 | May 24, 2024 |
| DES | 2 | May 24, 2024 |
| DYNC1H1 | 1 | Sep 18, 2024 |
| DYSF | 1 | Oct 1, 2024 |
| GAN | 2 | May 24, 2024 |
| GCH1 | 1 | Sep 26, 2024 |
| GJB1 | 1 | May 24, 2024 |
| HSD17B4 | 1 | Oct 1, 2024 |
| KIF1A | 2 | May 24, 2024 |
| LOC126862115 | 1 | May 24, 2024 |
| MFN2 | 4 | May 24, 2024 |
| MORC2 | 1 | May 24, 2024 |
| MPV17 | 2 | May 24, 2024 |
| MPZ | 1 | May 24, 2024 |
| PCYT2 | 1 | May 24, 2024 |
| PHKA1 | 1 | Sep 19, 2024 |
| PSEN1 | 1 | May 24, 2024 |
| RFT1 | 1 | May 24, 2024 |
| RRM2B | 2 | Sep 27, 2024 |
| RYR1 | 1 | Oct 1, 2024 |
| SERAC1 | 1 | May 24, 2024 |
| SETX | 2 | Oct 1, 2024 |
| SPAST | 1 | May 24, 2024 |
| SPG11 | 3 | May 24, 2024 |
| SPG7 | 1 | May 24, 2024 |
| VWA1 | 2 | May 24, 2024 |