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  2. Cytopenias and congenital anaemias
  3. ITGA2B
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Cytopenias and congenital anaemias

Gene: ITGA2B

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

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Phenotypes do not appear to be relevant to this panel
Created: 9 Mar 2017, 4:32 p.m.

Phenotypes
Glanzmann thrombasthenia, 273800

Created: 9 Mar 2017, 4:32 p.m.

Panel version: 0.522

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • BAK platelet antigen Glanzmann thrombasthenia, 273800
OMIM
607759
Clinvar variants
Variants in ITGA2B
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ITGA2B was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

ITGA2B was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

ITGA2B was created by LouiseD