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  3. ITGB2
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Cataract

Gene: ITGB2

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

1 review

Lauren Akesson (Royal Melbourne Hospital)

Red List (low evidence)

Cataract does not appear to be a feature of this condition.
Created: 6 Apr 2020, 6:44 a.m. | Last Modified: 6 Apr 2020, 6:44 a.m.
Panel Version: 0.60

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukocyte adhesion deficiency (MIM# 116920)

Created: 6 Apr 2020, 6:44 a.m.
Last Modified: 6 Apr 2020, 6:44 a.m.
Panel version: 0.60

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukocyte adhesion deficiency (MIM# 116920)
OMIM
600065
Clinvar variants
Variants in ITGB2
Penetrance
None
Panels with this gene

History Filter Activity

6 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: itgb2 has been classified as Red List (Low Evidence).

6 Apr 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ITGB2 were changed from to Leukocyte adhesion deficiency (MIM# 116920)

6 Apr 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ITGB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

6 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: itgb2 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ITGB2 was added gene: ITGB2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ITGB2 was set to Unknown