Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: ITGB2

Green List (high evidence)

ITGB2 (integrin subunit beta 2)
EnsemblGeneIds (GRCh38): ENSG00000160255
EnsemblGeneIds (GRCh37): ENSG00000160255
OMIM: 600065, Gene2Phenotype
ITGB2 is in 6 panels

2 reviews

Neil shah (GOSH)

Green List (high evidence)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Leukocyte adhesion deficiency 116920
OMIM
600065
Clinvar variants
Variants in ITGB2
Penetrance
Complete
Panels with this gene

History Filter Activity

14 Oct 2016, Gel status: 3

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.

6 Sep 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

ITGB2 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

6 Sep 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene ITGB2 were set to Leukocyte adhesion deficiency 116920

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ITGB2 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ITGB2 was created by ellenmcdonagh