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| Severe Paediatric Disorders v0.12 | RAG1 | Louise Daugherty reviewed gene: RAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | RAG1 | Louise Daugherty Publications for gene RAG1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | RAG1 | Louise Daugherty Mode of inheritance for gene RAG1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | RAG1 | Louise Daugherty Added phenotypes Combined cellular and humoral immune defects with granulomas, 233650; Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889; Severe combined immunodeficiency, B cell-negative, 601457; Omenn syndrome, 603554 for gene: RAG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | RAG1 | Louise Daugherty Added phenotypes Combined cellular and humoral immune defects with granulomas, 233650; Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889; Severe combined immunodeficiency, B cell-negative, 601457; Omenn syndrome, 603554 for gene: RAG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | RAG1 | Louise Daugherty Added phenotypes Combined cellular and humoral immune defects with granulomas, 233650; Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889; Severe combined immunodeficiency, B cell-negative, 601457; Omenn syndrome, 603554 for gene: RAG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | RAG1 | Louise Daugherty Added phenotypes Severe combined immunodeficiency, B cell-negative, 601457; Omenn syndrome, 603554; Combined cellular and humoral immune defects with granulomas, 233650; Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 for gene: RAG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | RAG1 | Louise Daugherty Source Next Generation Children Project was added to RAG1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | RAG1 |
Louise Daugherty Source Expert Review Green was added to RAG1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | RAG1 |
Louise Daugherty gene: RAG1 was added gene: RAG1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: RAG1 was set to |
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