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  2. Primary immunodeficiency or monogenic inflammatory bowel disease
  3. TGFBR2
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Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: TGFBR2

Green List (high evidence)
TGFBR2 (transforming growth factor beta receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000163513
EnsemblGeneIds (GRCh37): ENSG00000163513
OMIM: 190182, Gene2Phenotype
TGFBR2 is in 16 panels

2 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
Created: 8 Mar 2022, 3:09 p.m.
Last Modified: 8 Mar 2022, 3:09 p.m.
Panel version: 2.536

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

Created: 28 Feb 2020, 8:49 p.m.
Last Modified: 28 Feb 2020, 8:49 p.m.
Panel version: 2.36

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • ALPS-FAS
  • Loeys-Dietz syndrome 2, OMIM:610168
  • Combined immunodeficiencies with associated or syndromic features
  • Recurrent respiratory infections, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms
OMIM
190182
Clinvar variants
Variants in TGFBR2
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 TGFBR2. Added phenotypes Loeys-Dietz syndrome 2, OMIM:610168 for gene: TGFBR2 Publications for gene: TGFBR2 were updated from 32086639; 32048120; 29392890 to 32048120; 29392890; 32086639; 24486179 Rating Changed from Red List (low evidence) to Green List (high evidence)

28 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene TGFBR2 were updated from 32048120; 32086639 to 32086639; 32048120; 29392890

28 Feb 2020, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: TGFBR2 was added gene: TGFBR2 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TGFBR2 were set to 32048120; 32086639 Phenotypes for gene: TGFBR2 were set to Recurrent respiratory infections, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms; ALPS-FAS; Combined immunodeficiencies with associated or syndromic features