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| COVID-19 research v0.36 | NFKBIA |
Ellen McDonagh gene: NFKBIA was added gene: NFKBIA was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: NFKBIA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NFKBIA were set to 18412279; 17931563; 14523047; 15337789 Phenotypes for gene: NFKBIA were set to Combined immunodeficiencies with associated or syndromic features; Anhidrotic ectodermal dysplasia, various infections (bacteria, mycobacteria, viruses and fungi), colitis, variable defects of skin, hair and teeth, T cell and monocyte dysfunction; Defects of TLR/NFkappa-B signalling; Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency 612132 Mode of pathogenicity for gene: NFKBIA was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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