ITGB2

integrin subunit beta 2
OMIM: 600065, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green ITGB2 in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.39

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Leukocyte adhesion deficiency 116920

Amber ITGB2 in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.73

review Unknown
Sources
  • Expert Review Amber
  • Expert list

Green ITGB2 in COVID-19 research


Level 2: Viral research
Version 1.130

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • GOSH PID v.8.0
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
Phenotypes
  • Delayed cord separation, skin ulcers, periodontitis, leukocytosis
  • Leukocyte adhesion deficiency type I
  • Congenital defects of phagocyte number or function
  • LAD
  • Leukocyte adhesion deficiency, 116920

Green ITGB2 in Primary immunodeficiency


Version 2.573
Latest signed off version: v2.1 (24 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
Phenotypes
  • Leukocyte adhesion deficiency, 116920
  • LAD
  • Leukocyte adhesion deficiency type I
  • Delayed cord separation, skin ulcers, periodontitis, leukocytosis
  • Congenital defects of phagocyte number or function

Green ITGB2 in Severe Paediatric Disorders


Version 1.127

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukocyte adhesion deficiency, 116920