Infantile enterocolitis & 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 18 panels

3 reviews

Richard Scott (Genomics England Curator)

Comment on list classification: Not a common phenotypic feature. Needs further evidence before on this panel.
Created: 13 Oct 2016, 8:57 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to green due to expert review and internal review.
Created: 14 Oct 2016, 10:22 a.m.
Comment on list classification: High level of evidence for Loeys-Dietz syndrome.
Created: 13 Oct 2016, 2:49 p.m.

Neil shah (GOSH)

Green List (high evidence)

History Filter Activity

14 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

14 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Oct 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for TGFBR2 were set to Loeys-Dietz-Syndrome;Loeys-Dietz syndrome 2

13 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TGFBR2 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TGFBR2 was created by ellenmcdonagh