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Inherited bleeding disorders
Gene: ITGA2B

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

Created: 19 Dec 2016, 11:31 a.m.

Panel version: 0.18

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

Created: 19 Dec 2016, 11:18 a.m.

Panel version: 0.17

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

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