Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: TGFB1
This gene has been confirmed for this panel by the NHS Genomic Medicine Service as the eligibility criteria of R15 has been extended to include IBD genes and should be rated green.Created: 8 Mar 2022, 3:09 p.m. | Last Modified: 8 Mar 2022, 3:09 p.m.
Panel Version: 2.536
Comment on list classification: Promoted from Red to Amber based on expert review and evidence.Created: 15 Apr 2020, 3:40 p.m. | Last Modified: 15 Apr 2020, 3:40 p.m.
Panel Version: 2.78
Two families and some functional data.Created: 11 Apr 2020, 11:08 a.m. | Last Modified: 11 Apr 2020, 11:08 a.m.
Panel Version: 2.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM# 618213
Publications
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; 618213; Inflammatory bowel disease, immunodeficiency, and encephalopathy, OMIM; TGFB1 deficiency; Diseases of Immune Dysregulation; IBD, immunodeficiency, recurrent viral infections, microcephaly, and encephalopathy 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, OMIM; 618213 for gene: TGFB1 Publications for gene: TGFB1 were updated from 32086639; 32048120; 29483653 to 32048120; 29483653; 32086639 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: tgfb1 has been classified as Amber List (Moderate Evidence).
Publications for gene TGFB1 were updated from 32048120; 32086639 to 32086639; 32048120; 29483653
gene: TGFB1 was added gene: TGFB1 was added to Primary immunodeficiency. 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 32048120; 32086639 Phenotypes for gene: TGFB1 were set to Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213; IBD, immunodeficiency, recurrent viral infections, microcephaly, and encephalopathy; Diseases of Immune Dysregulation; TGFB1 deficiency