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Prepair 1000+

Gene: ITGB2

Green List (high evidence)
ITGB2 (integrin subunit beta 2)
EnsemblGeneIds (GRCh38): ENSG00000160255
EnsemblGeneIds (GRCh37): ENSG00000160255
OMIM: 600065, Gene2Phenotype
ITGB2 is in 8 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene disease association. Onset of condition from birth or early weeks of life.
Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes.

Multiple families reported.
Created: 4 Sep 2024, 10:56 a.m. | Last Modified: 4 Sep 2024, 10:56 a.m.
Panel Version: 1.258

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukocyte adhesion deficiency MIM#116920

Publications

Created: 4 Sep 2024, 10:56 a.m.
Last Modified: 4 Sep 2024, 10:56 a.m.
Panel version: 1.258

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukocyte adhesion deficiency, 116920 (3)
OMIM
600065
Clinvar variants
Variants in ITGB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: itgb2 has been classified as Green List (High Evidence).

6 Sep 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: ITGB2 were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ITGB2 was added gene: ITGB2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ITGB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGB2 were set to Leukocyte adhesion deficiency, 116920 (3)