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| Primary immunodeficiency or monogenic inflammatory bowel disease v8.99 | FGR |
Boaz Palterer gene: FGR was added gene: FGR was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: FGR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGR were set to Autoinflammatory disease; Cutaneous vasculitis; Lung inflammation; Lung fibrosis; Interstitial lung disease Penetrance for gene: FGR were set to unknown Mode of pathogenicity for gene: FGR was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: FGR was set to RED Added comment: Price-Kuehne et al. described very large kindred with autosomal dominant Gain of function due to loss of regulatory tyrosine in FGR https://link.springer.com/article/10.1007/s10875-026-01998-z Sources: Literature |
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