Division of Human Genetics (National Health Laboratory Service/University of the Witwatersrand), HumGenJHB
General information
Division of Human Genetics, HumGenJHB
National Health Laboratory Service/University of the Witwatersrand
De Korte Street
Johannesburg
Gauteng
South Africa - 2000
https://www.wits.ac.za/pathology/divisions/human-genetics/
Organization ID: 508172
National Health Laboratory Service/University of the Witwatersrand
De Korte Street
Johannesburg
Gauteng
South Africa - 2000
https://www.wits.ac.za/pathology/divisions/human-genetics/
Organization ID: 508172
Personnel
- Fiona Baine-Savanhu, Staff
Phone: +27114899211
Email: a0042992@wits.ac.za - Nadia Carstens, Staff
Phone: +27114899211
Email: a0031135@wits.ac.za - Amanda Krause, Lab Director
Phone: +27114899211
Email: amanda.krause@wits.ac.za - Zane Lombard, Staff
Phone: +27114899211
Email: zane.lombard@wits.ac.za - Maria Mudau, Staff
Phone: +27114899211
Email: a0040144@wits.ac.za
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 173
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCD1 | 1 | Sep 12, 2023 |
| APC | 1 | Sep 12, 2023 |
| ARSB | 1 | Sep 12, 2023 |
| ATRX | 1 | Nov 16, 2023 |
| BBS10 | 1 | Nov 16, 2023 |
| BRAF | 6 | Nov 16, 2023 |
| BRCA1 | 1 | Sep 12, 2023 |
| BRCA2 | 1 | Sep 12, 2023 |
| CFTR | 3 | Sep 12, 2023 |
| CFTR-AS2 | 2 | Sep 12, 2023 |
| CHD7 | 6 | Nov 16, 2023 |
| CHST6 | 1 | Nov 24, 2021 |
| CLCN1 | 1 | Sep 12, 2023 |
| COL1A1 | 1 | Sep 12, 2023 |
| COL1A2 | 2 | Nov 16, 2023 |
| COL2A1 | 3 | Nov 16, 2023 |
| COL5A2 | 1 | Sep 12, 2023 |
| COL7A1 | 2 | Nov 16, 2023 |
| CPLANE1 | 1 | Nov 16, 2023 |
| CTSK | 1 | Sep 12, 2023 |
| DMD | 1 | Nov 16, 2023 |
| EDA | 1 | Sep 12, 2023 |
| F8 | 6 | Dec 5, 2024 |
| F9 | 2 | Nov 16, 2023 |
| FANCG | 2 | Nov 16, 2023 |
| FBN1 | 9 | Nov 16, 2023 |
| FGFR2 | 4 | Nov 16, 2023 |
| FGFR3 | 4 | Nov 16, 2023 |
| GPC3 | 1 | Nov 16, 2023 |
| JAG1 | 1 | Sep 12, 2023 |
| LDLR | 2 | Nov 16, 2023 |
| LOC111674472 | 1 | Sep 12, 2023 |
| LOC111811965 | 2 | Mar 10, 2023 |
| LOC126860403 | 1 | Jul 26, 2022 |
| LZTR1 | 5 | Sep 12, 2023 |
| MAP2K1 | 1 | Nov 16, 2023 |
| MAP2K2 | 1 | Mar 10, 2023 |
| MECP2 | 2 | Nov 16, 2023 |
| MEF2C | 1 | Nov 16, 2023 |
| MFN2 | 1 | Nov 16, 2023 |
| MIR4733HG | 2 | Mar 10, 2023 |
| MTM1 | 1 | Aug 14, 2023 |
| MYH3 | 1 | Sep 12, 2023 |
| NF1 | 22 | Nov 16, 2023 |
| NIPBL | 9 | Nov 16, 2023 |
| NPHS1 | 1 | Aug 14, 2023 |
| NRAS | 1 | Mar 10, 2023 |
| NSD1 | 2 | Nov 16, 2023 |
| OCRL | 1 | Aug 14, 2023 |
| PAX3 | 1 | Sep 12, 2023 |
| PCNT | 1 | Nov 16, 2023 |
| PKD1 | 1 | Nov 16, 2023 |
| PKHD1 | 1 | Nov 16, 2023 |
| PLXNB3-AS1 | 1 | Sep 12, 2023 |
| POLR1D | 1 | Jul 26, 2022 |
| POLR2F | 1 | Nov 16, 2023 |
| PRSS1 | 1 | Nov 16, 2023 |
| PTPN11 | 15 | Nov 16, 2023 |
| RAF1 | 2 | Mar 10, 2023 |
| RET | 1 | Nov 16, 2023 |
| RYR1 | 3 | Nov 16, 2023 |
| SDHD | 1 | Nov 16, 2023 |
| SHOC2 | 1 | Aug 14, 2023 |
| SOS1 | 2 | Mar 10, 2023 |
| SOX10 | 1 | Nov 16, 2023 |
| STAC3 | 1 | Aug 14, 2023 |
| STAG1 | 1 | Sep 7, 2023 |
| STK11 | 1 | Nov 16, 2023 |
| TCOF1 | 5 | Nov 16, 2023 |
| TGM1 | 1 | Sep 12, 2023 |
| TP53 | 1 | Sep 12, 2023 |
| TP63 | 2 | Nov 16, 2023 |
| TRB | 1 | Nov 16, 2023 |
| TRPS1 | 1 | Sep 12, 2023 |
| TRPV4 | 3 | Nov 16, 2023 |
| TSC2 | 5 | Nov 16, 2023 |
| WNT10A | 1 | Nov 16, 2023 |
| XPA | 1 | Nov 16, 2023 |
| XPC | 2 | Nov 16, 2023 |