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IBMDx study

Gene: ITGB3

Green List (high evidence)
ITGB3 (integrin subunit beta 3)
EnsemblGeneIds (GRCh38): ENSG00000259207
EnsemblGeneIds (GRCh37): ENSG00000259207
OMIM: 173470, Gene2Phenotype
ITGB3 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 unrelated families reported.
Created: 15 Apr 2021, 7:10 a.m. | Last Modified: 15 Apr 2021, 7:10 a.m.
Panel Version: 0.213

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bleeding disorder, platelet-type, 24, MIM#619271; MONDO:0008552

Publications

Created: 15 Apr 2021, 7:10 a.m.
Last Modified: 15 Apr 2021, 7:10 a.m.
Panel version: Imported from Bleeding and Platelet Disorders panel version 0.213

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glanzmann thrombasthenia, Platelet-type bleeding disorder 16
OMIM
173470
Clinvar variants
Variants in ITGB3
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ITGB3 was added gene: ITGB3 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: ITGB3 was set to Unknown Phenotypes for gene: ITGB3 were set to Glanzmann thrombasthenia, Platelet-type bleeding disorder 16