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  3. ITGB2
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Gastrointestinal epithelial barrier disorders

Gene: ITGB2

Amber List (moderate evidence)
ITGB2 (integrin subunit beta 2)
EnsemblGeneIds (GRCh38): ENSG00000160255
EnsemblGeneIds (GRCh37): ENSG00000160255
OMIM: 600065, Gene2Phenotype
ITGB2 is in 4 panels

3 reviews

Olivia Niblock (Genomics England Curator)

Comment on list classification: Drawing on the two green reviews previously submitted and the evidence found in the literature (27886173), it appears that there is a link between variants in this gene and gastrointestinal epithelial barrier phenotypes (Inflammatory Bowel Disease and Ulcerative Colitis) however the literature describes the different methylation states (rather than specific SNPs) of various genes (including ITGB2) between patients with UC/IBD and controls and it is difficult to ascertain if the methylation is causative, contributory or unrelated to the gastrointestinal phenotypes or general inflammation.
In addition to this, internal clinical review has advised that this gene is not clearly linked to a gastrointestinal phenotype.
Therefore I have rated this gene as amber.
Created: 25 Jul 2018, 2:01 p.m.
Created: 25 Jul 2018, 2:01 p.m.

Panel version: 0.26

Neil shah (GOSH)

Green List (high evidence)

Created: 12 Oct 2016, 7:31 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.122

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel. At least 15 variants reported.
Created: 6 Sep 2016, 8 a.m.
Created: 6 Sep 2016, 8 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.96

History Filter Activity

25 Jul 2018, Gel status: 2

Panel promoted to version 1.0

Olivia Niblock (Genomics England Curator)

Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018

25 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

Gene: itgb2 has been classified as Amber List (Moderate Evidence).

25 Jul 2018, Gel status: 1

Set mode of inheritance, Set publications

Olivia Niblock (Genomics England Curator)

Model of inheritance for gene ITGB2 was set to Unknown Publications for gene ITGB2 was set to ['27886173']

17 Apr 2018, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

ITGB2 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Expert list

17 Apr 2018, Gel status: 1

Created

Olivia Niblock (Genomics England Curator)

ITGB2 was created by Olivia Niblock