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| Genomic newborn screening: BabyScreen+ v1.139 | RAG2 | Zornitza Stark Phenotypes for gene: RAG2 were changed from Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457; Combined cellular and humoral immune defects with granulomas MIM# 233650 to Recombinase activating gene 2 deficiency MONDO:0000573 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v1.138 | RAG2 | Zornitza Stark edited their review of gene: RAG2: Changed phenotypes: Recombinase activating gene 2 deficiency MONDO:0000573 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1477 | RAG2 | Zornitza Stark Marked gene: RAG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1477 | RAG2 | Zornitza Stark Gene: rag2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1477 | RAG2 | Zornitza Stark Phenotypes for gene: RAG2 were changed from Omenn syndrome, MIM#603554 to Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457; Combined cellular and humoral immune defects with granulomas MIM# 233650 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1476 | RAG2 |
Zornitza Stark Tag treatable tag was added to gene: RAG2. Tag immunological tag was added to gene: RAG2. |
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| Genomic newborn screening: BabyScreen+ v0.1476 | RAG2 | Zornitza Stark reviewed gene: RAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Omenn syndrome MIM# 603554, Severe combined immunodeficiency, B cell-negative MIM# 601457, Combined cellular and humoral immune defects with granulomas MIM# 233650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.0 | RAG2 |
Zornitza Stark gene: RAG2 was added gene: RAG2 was added to gNBS. Sources: BEginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RAG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAG2 were set to Omenn syndrome, MIM#603554 |
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