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COVID-19 research

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

2 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
infantile-onset inflammatory bowel disease; epilepsy; brain atrophy; posterior leukoencephalopathy

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
Phenotypes
  • Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213
  • IBD, immunodeficiency, recurrent viral infections, microcephaly, and encephalopathy
  • TGFB1 deficiency
  • Diseases of Immune Dysregulation
OMIM
190180
Clinvar variants
Variants in TGFB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

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)

1 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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