Rare Disease Genomics Lab (Stellenbosch Faculty of Medicine)
General information
Rare Disease Genomics Lab
Stellenbosch Faculty of Medicine
Francie Van ZIjl Drive FISAN 3rd floor
TYGERBERG, CAPE TOWN
South Africa - 7505
http://www.sun.ac.za/english/faculty/healthsciences/Molecular_Biology_Human_Genetics/rare-disease_genomics/Pages/default.aspx
Organization ID: 508198
Stellenbosch Faculty of Medicine
Francie Van ZIjl Drive FISAN 3rd floor
TYGERBERG, CAPE TOWN
South Africa - 7505
http://www.sun.ac.za/english/faculty/healthsciences/Molecular_Biology_Human_Genetics/rare-disease_genomics/Pages/default.aspx
Organization ID: 508198
Personnel
- Shahida Moosa, Principal Investigator
Phone: 0027219389218
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 5
Gene
Gene | Submissions | Last Updated |
---|---|---|
COL1A1 | 3 | Nov 13, 2023 |
COL1A2 | 2 | Nov 13, 2023 |
LOC126862586 | 1 | Nov 13, 2023 |
Condition
Name | Submissions | Last Updated |
---|---|---|
Osteogenesis imperfecta type III | 3 | Nov 13, 2023 |
Osteogenesis imperfecta with normal sclerae, dominant form | 1 | Nov 13, 2023 |
Osteogenesis imperfecta, perinatal lethal | 1 | Nov 13, 2023 |