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Primary immunodeficiency

Gene: TGFB1

Green List (high evidence)

TGFB1 (transforming growth factor beta 1)
EnsemblGeneIds (GRCh38): ENSG00000105329
EnsemblGeneIds (GRCh37): ENSG00000105329
OMIM: 190180, Gene2Phenotype
TGFB1 is in 8 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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)

I don't know

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)

I don't know

Added publication referenced by IUIS december 2019 update
Created: 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, 618213
  • 618213
  • Inflammatory bowel disease, immunodeficiency, and encephalopathy, OMIM
  • TGFB1 deficiency
  • Diseases of Immune Dysregulation
  • IBD, immunodeficiency, recurrent viral infections, microcephaly, and encephalopathy
OMIM
190180
Clinvar variants
Variants in TGFB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 3

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)

15 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tgfb1 has been classified as Amber List (Moderate Evidence).

28 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene TGFB1 were updated from 32048120; 32086639 to 32086639; 32048120; 29483653

28 Feb 2020, Gel status: 1

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