Inherited bleeding disorders
Gene: ITGB3EnsemblGeneIds (GRCh38): ENSG00000259207
EnsemblGeneIds (GRCh37): ENSG00000259207
OMIM: 173470, Gene2Phenotype
ITGB3 is in 6 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on publications: added publications to support association to phenotype(s)Created: 26 Jul 2017, 4:25 p.m.
Comment on phenotypes: added phenotypesCreated: 26 Jul 2017, 4:21 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Glanzmann thrombasthenia
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Glanzmann thrombasthenia
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- BRIDGE Study Tier 1 Gene
- Phenotypes
-
- Glanzmann thrombasthenia (BIALLELIC, autosomal or pseudoautosomal)
- 273800
- Bleeding disorder, platelet-type, 16, autosomal dominant (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown)
- 187800
- BDPLT16
- Congenital macrothrombocytopenia
- OMIM
- 173470
- Clinvar variants
- Variants in ITGB3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for ITGB3 were set to Glanzmann thrombasthenia (BIALLELIC, autosomal or pseudoautosomal); 273800; Bleeding disorder, platelet-type, 16, autosomal dominant (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown); 187800; BDPLT16; Congenital macrothrombocytopenia
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for ITGB3 were set to Glanzmann thrombasthenia (BIALLELIC, autosomal or pseudoautosomal); 273800; Bleeding disorder, platelet-type, 16, autosomal dominant (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown); 187800; BDPLT16; Congenital macrothrombocytopenia
Set publications
Louise Daugherty (Genomics England Curator)Publications for ITGB3 were set to 18065693;1371279;1438206;1430225;19336737
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for ITGB3 were set to Glanzmann thrombasthenia (AR); 273800; Bleeding disorder, platelet-type, 16, autosomal dominant (AD); 187800; BDPLT16; Congenital macrothrombocytopenia
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for ITGB3 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
Set Mode of Inheritance, Added New Source
Louise Daugherty (Genomics England Curator)ITGB3 was added to Inherited bleeding disorderspanel. Source: Expert Review Green Model of inheritance for gene ITGB3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)ITGB3 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene
Created
Ellen McDonagh (Genomics England Curator)ITGB3 was created by ellenmcdonagh