RAG2, recombination activating 2, 5897
N. diseases: 207; N. variants: 44
Source: ALL
Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.010 | GeneticVariation | BEFREE | These presentations are consistent with atypical severe combined immunodeficiency (SCID)/Omenn Syndrome and the diagnosis was confirmed by demonstration of homozygosity for the R841W mutation in the catalytic core of RAG1. | 18592361 | 2008 | |||||||
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0.800 | GeneticVariation | UNIPROT | Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia. | 19912631 | 2009 | |||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. | 11133745 | 2001 | |||||||
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0.800 | GeneticVariation | UNIPROT | Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders. | 10606976 | 2000 | |||||||
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0.800 | GeneticVariation | UNIPROT | Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. | 21624848 | 2011 | |||||||
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0.800 | GeneticVariation | UNIPROT | Partial V(D)J recombination activity leads to Omenn syndrome. | 9630231 | 1998 | |||||||
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0.800 | GeneticVariation | UNIPROT | Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome. | 21771083 | 2011 | |||||||
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G | 0.700 | GeneticVariation | CLINVAR | A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome. | 22841008 | 2012 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. | 26457731 | 2015 | ||||||
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0.040 | GeneticVariation | BEFREE | While Rag2-R229Q mutation under some conditions may cause severe immunological and clinical phenotypes similar to human SCID or OS, R229Q mutation per se did not cause severe immunodeficiency in mice, suggesting that additional factors other than R229Q mutation are required to induce severe immunodeficiency. | 30872621 | 2019 | |||||||
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0.040 | GeneticVariation | BEFREE | In conclusion, Rag2(R229Q/R229Q) mice mimicked most symptoms of human OS; our findings support the notion that impaired immune tolerance and defective immune regulation are involved in the pathophysiology of OS. | 17476358 | 2007 | |||||||
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0.040 | GeneticVariation | BEFREE | Hypomorphic Rag2(R229Q) knock-in mice, which recapitulate OS, revealed, beyond severe B cell developmental arrest, a normal or even enlarged compartment of immunoglobulin-secreting cells (ISC). | 20547828 | 2010 | |||||||
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0.040 | GeneticVariation | BEFREE | Here we show the effect of anti-CD3ε mAb administration in the RAG2(R229Q) mouse model, which closely recapitulates human OS. | 22723555 | 2012 | |||||||
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0.800 | GeneticVariation | UNIPROT | Partial V(D)J recombination activity leads to Omenn syndrome. | 9630231 | 1998 | |||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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C | 0.800 | GeneticVariation | CLINVAR | V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. | 11133745 | 2001 | ||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | Partial V(D)J recombination activity leads to Omenn syndrome. | 9630231 | 1998 | |||||||
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C | 0.800 | GeneticVariation | CLINVAR | V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. | 11133745 | 2001 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | RAG-dependent primary immunodeficiencies. | 16960852 | 2006 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome. | 15025726 | 2004 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Characterizing T cells in SCID patients presenting with reactive or residual T lymphocytes. | 23243423 | 2012 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome. | 11313270 | 2001 |