Inherited bleeding disorders

Gene: ITGA2B

Green List (high evidence)

ITGA2B (integrin subunit alpha 2b)
EnsemblGeneIds (GRCh38): ENSG00000005961
EnsemblGeneIds (GRCh37): ENSG00000005961
OMIM: 607759, Gene2Phenotype
ITGA2B is in 4 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on publications: added publications to support associated phenotypes
Created: 26 Jul 2017, 4:17 p.m.
Comment on publications: added publication to support change in the MOI. MacroTP (BDPLT16) AD (OMIM 187800)
Created: 26 Jul 2017, 4:04 p.m.
Comment on mode of inheritance: changed MOI due to additional associated phenotype with different MOI
Created: 26 Jul 2017, 4:01 p.m.
Comment on phenotypes: added additional phenotype and MOI
Created: 26 Jul 2017, 4 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glanzmann thrombasthenia

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, 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, 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
607759
Clinvar variants
Variants in ITGA2B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ITGA2B 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

26 Jul 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ITGA2B were set to 2014236;1702098; 8282784;8704171;18065693;21454453;9834222

26 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ITGA2B were set to Glanzmann thrombasthenia (AR); 273800; Bleeding disorder, platelet-type, 16, autosomal dominant (AD); 187800; BDPLT16;Congenital macrothrombocytopenia

26 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ITGA2B were set to Glanzmann thrombasthenia (AR); 273800; Bleeding disorder, platelet-type, 16, autosomal dominant (AD); 187800; congenital macrothrombocytopenia

26 Jul 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ITGA2B were set to 18065693

26 Jul 2017, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for ITGA2B was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

26 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ITGA2B were set to Glanzmann thrombasthenia (AR);273800;Bleeding disorder, platelet-type, 16, autosomal dominant (AD);187800

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

ITGA2B was added to Inherited bleeding disorderspanel. Source: Expert Review Green

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ITGA2B was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ITGA2B was created by ellenmcdonagh