COVID-19 research
Gene: TGFB1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
infantile-onset inflammatory bowel disease; epilepsy; brain atrophy; posterior leukoencephalopathy
Added publication referenced by IUIS december 2019 updateCreated: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36
Publications
Phenotypes for gene: TGFB1 were changed from Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213; IBD, immunodeficiency, recurrent viral infections, microcephaly, and encephalopathy; TGFB1 deficiency; Diseases of Immune Dysregulation to Inflammatory bowel disease, immunodeficiency, and encephalopathy, OMIM:618213
Source Expert Review Green was added to TGFB1. Added phenotypes Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213; IBD, immunodeficiency, recurrent viral infections, microcephaly, and encephalopathy; TGFB1 deficiency; Diseases of Immune Dysregulation for gene: TGFB1 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: TGFB1 was added gene: TGFB1 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: TGFB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TGFB1 were set to 32086639; 32048120; 29483653 Phenotypes for gene: TGFB1 were set to Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213; IBD, immunodeficiency, recurrent viral infections, microcephaly, and encephalopathy; TGFB1 deficiency; Diseases of Immune Dysregulation