Clinical Omics and Informatics (COIN) Unit (Neuroscience Institute, University Of Cape Town), UCT NRG
General information
Clinical Omics and Informatics (COIN) Unit, UCT NRG
Neuroscience Institute, University Of Cape Town
Groote Schuur Hospital, Main Road, Observatory
Cape Town
Western Cape
South Africa - 7925
https://health.uct.ac.za/coin
Organization ID: 508824
Neuroscience Institute, University Of Cape Town
Groote Schuur Hospital, Main Road, Observatory
Cape Town
Western Cape
South Africa - 7925
https://health.uct.ac.za/coin
Organization ID: 508824
Personnel
- Melissa Nel, Principal Investigator
Phone: +27836438393
Email: melissa.nel@uct.ac.za - Nabeelah Peerbhai, Genetic Counselor
Phone: +27847050392
Email: nabeelah.peerbhai@uct.ac.za
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 99
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ADPRS | 1 | Dec 18, 2025 |
| ALDH18A1 | 2 | Feb 11, 2025 |
| ANXA11 | 1 | Feb 11, 2025 |
| ATL1 | 1 | Feb 11, 2025 |
| ATM | 1 | Feb 11, 2025 |
| ATP1A1 | 1 | Feb 11, 2025 |
| ATP1A1-AS1 | 1 | Feb 11, 2025 |
| C17orf107 | 1 | Feb 11, 2025 |
| CAPN3 | 3 | Feb 11, 2025 |
| CHRNE | 2 | Feb 11, 2025 |
| CLCN1 | 4 | Apr 17, 2025 |
| COL6A1 | 1 | Feb 11, 2025 |
| COL6A2 | 3 | Jul 10, 2026 |
| CSF1R | 1 | Apr 17, 2025 |
| CYP7B1 | 2 | Feb 11, 2025 |
| DES | 2 | Feb 11, 2025 |
| DHDDS | 1 | Feb 11, 2025 |
| DMD | 2 | Apr 17, 2025 |
| DNAAF3 | 1 | Feb 11, 2025 |
| DNAAF3-AS1 | 1 | Feb 11, 2025 |
| DYNC1H1 | 1 | Feb 11, 2025 |
| DYSF | 1 | Feb 11, 2025 |
| EMD | 1 | May 8, 2025 |
| FUS | 2 | Apr 17, 2025 |
| GAA | 2 | Feb 17, 2025 |
| GAN | 2 | Aug 27, 2025 |
| GCH1 | 1 | Feb 17, 2025 |
| GJB1 | 1 | Feb 11, 2025 |
| GNE | 1 | Feb 11, 2025 |
| HSD17B4 | 1 | Feb 11, 2025 |
| HSPB1 | 1 | Apr 17, 2025 |
| KIF1A | 2 | Feb 11, 2025 |
| LMNA | 1 | Feb 11, 2025 |
| LOC126860531 | 2 | Feb 11, 2025 |
| LOC126862115 | 1 | Feb 11, 2025 |
| LOC130060040 | 1 | Feb 11, 2025 |
| MFN2 | 6 | Jul 21, 2025 |
| MME | 1 | Jun 12, 2026 |
| MORC2 | 1 | Feb 11, 2025 |
| MPV17 | 2 | Apr 17, 2025 |
| MPZ | 1 | Feb 11, 2025 |
| MT-ATP6 | 1 | May 23, 2025 |
| NDRG1 | 2 | Feb 11, 2025 |
| OPA1 | 1 | Apr 11, 2025 |
| PCYT2 | 1 | Feb 11, 2025 |
| PEX11B | 1 | Apr 17, 2025 |
| PEX16 | 1 | Jul 21, 2025 |
| PHKA1 | 1 | Feb 17, 2025 |
| PSEN1 | 1 | Feb 11, 2025 |
| RFT1 | 1 | Feb 11, 2025 |
| RRM2B | 2 | Feb 11, 2025 |
| RYR1 | 2 | Jul 21, 2025 |
| SELENON | 2 | Feb 11, 2025 |
| SERAC1 | 1 | Feb 11, 2025 |
| SETX | 2 | Feb 17, 2025 |
| SMN1 | 1 | Apr 23, 2026 |
| SOD1 | 5 | Jul 21, 2025 |
| SPAST | 1 | Feb 11, 2025 |
| SPG11 | 3 | Feb 11, 2025 |
| SPG7 | 1 | Feb 11, 2025 |
| SPTBN2 | 1 | Feb 11, 2025 |
| STIM1 | 1 | Oct 10, 2025 |
| TDP1 | 1 | Aug 27, 2025 |
| TREM2 | 1 | Feb 11, 2025 |
| TWNK | 2 | Apr 17, 2025 |
| VCP | 1 | Feb 17, 2025 |
| VWA1 | 2 | Aug 27, 2025 |
| WASHC5 | 1 | Jun 12, 2026 |