Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: TGFB1EnsemblGeneIds (GRCh38): ENSG00000105329
EnsemblGeneIds (GRCh37): ENSG00000105329
OMIM: 190180, Gene2Phenotype
TGFB1 is in 7 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
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
Ivone Leong (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Louise Daugherty (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- IUIS Classification December 2019
- Phenotypes
-
- Inflammatory bowel disease, immunodeficiency, and encephalopathy, OMIM:618213
- OMIM
- 190180
- Clinvar variants
- Variants in TGFB1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Added New Source, Set Phenotypes, Set publications, Status Update
Arina Puzriakova (Genomics England Curator)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)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: tgfb1 has been classified as Amber List (Moderate Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene TGFB1 were updated from 32048120; 32086639 to 32086639; 32048120; 29483653
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Louise Daugherty (Genomics England Curator)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