Pediatric Immunology Service (The Chaim Sheba Medical Center at Tel HaShomer)
General information
Personnel
- Yu Nee Lee, Principal Investigator
Phone: 972-52-5732045
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 35
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| RAG2 | 35 | Mar 11, 2018 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency | 5 | Mar 11, 2018 |
| Combined immunodeficiency with skin granulomas | 4 | Mar 11, 2018 |
| Histiocytic medullary reticulosis | 19 | Mar 11, 2018 |
| Inborn error of immunity | 35 | Mar 11, 2018 |
| Recombinase activating gene 2 deficiency | 35 | Mar 11, 2018 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 9 | Mar 11, 2018 |