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| COVID-19 research v0.36 | PIK3R1 |
Ellen McDonagh gene: PIK3R1 was added gene: PIK3R1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: PIK3R1 were set to 25133428; 22351933; 9888855; 25488983 Phenotypes for gene: PIK3R1 were set to Agammaglobulinemia; Severe bacterial infections, decreased or absent pro-B cells; Combined immunodeficiency; Immunodeficiency 36; Activated PI3K-delta syndrome (APDS); immunodeficiency with hypogammaglobulinaemia, lymphoproliferation and inflammatory disease (AD); Agammaglobulinemia 7, autosomal recessive, 615214; Agammaglobulinemia 7; Immunodeficiency 36, 616005; Predominantly Antibody Deficiencies; SHORT syndrome, 269880; Severe bacterial infections, pro-B cells present and low numbers of memory B cells, EBV |
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