Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: ITGB2
ITGB2 (integrin subunit beta 2)
EnsemblGeneIds (GRCh38): ENSG00000160255
EnsemblGeneIds (GRCh37): ENSG00000160255
OMIM: 600065, Gene2Phenotype
ITGB2 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000160255
EnsemblGeneIds (GRCh37): ENSG00000160255
OMIM: 600065, Gene2Phenotype
ITGB2 is in 4 panels
2 reviews
Neil shah (GOSH)
Sarah Leigh (Genomics England Curator)
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