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STRs in panel
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Primary immunodeficiency

Gene: TGFBR1

Green List (high evidence)

TGFBR1 (transforming growth factor beta receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000106799
EnsemblGeneIds (GRCh37): ENSG00000106799
OMIM: 190181, Gene2Phenotype
TGFBR1 is in 18 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

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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Loeys-Dietz syndrome 1, 609192
  • Loeys Dietz syndrome due to TGFBR1 deficiency
  • Recurrent respiratory infectons, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms
  • Combined immunodeficiencies with associated or syndromic features
  • Loeys-Dietz syndrome 1, OMIM:609192
OMIM
190181
Clinvar variants
Variants in TGFBR1
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 TGFBR1. Added phenotypes Loeys-Dietz syndrome 1, OMIM:609192 for gene: TGFBR1 Publications for gene: TGFBR1 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 TGFBR1 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: TGFBR1 was added gene: TGFBR1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TGFBR1 were set to 32048120; 32086639 Phenotypes for gene: TGFBR1 were set to Recurrent respiratory infectons, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms; Loeys Dietz syndrome due to TGFBR1 deficiency; Loeys-Dietz syndrome 1, 609192; Combined immunodeficiencies with associated or syndromic features