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  2. Bleeding and Platelet Disorders
  3. ITGB3
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Bleeding and Platelet Disorders

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: 0.213

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bleeding disorder, platelet-type, 24, MIM#619271
  • MONDO:0008552
OMIM
173470
Clinvar variants
Variants in ITGB3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: itgb3 has been classified as Green List (High Evidence).

15 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ITGB3 were changed from to Bleeding disorder, platelet-type, 24, MIM#619271; MONDO:0008552

15 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ITGB3 were set to

15 Apr 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ITGB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ITGB3 was added gene: ITGB3 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ITGB3 was set to Unknown