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Newborns main panel

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

Arina Puzriakova (Genomics England Curator)

Special Consideration: VCEP - a ClinGen Variant Review Expert Panel (VCEP) has produced specifications to the ACMP/AMP variant interpretation guidelines for this gene.

Additional Information: Link to Platelet Disorders Variant Curation Expert Panel (VCEP) - https://www.clinicalgenome.org/affiliation/50040/
Created: 26 Sep 2024, 3:29 p.m. | Last Modified: 26 Sep 2024, 3:29 p.m.
Panel Version: 0.469
Created: 26 Sep 2024, 3:29 p.m.
Last Modified: 26 Sep 2024, 3:29 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
ITGA2B curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glanzmann thrombasthenia 1
Tags
special_consideration
OMIM
607759
Clinvar variants
Variants in ITGA2B
Penetrance
None
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: ITGA2B.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Glanzmann thrombasthenia 1 for gene: ITGA2B

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to ITGA2B. Added phenotypes Glanzmann thrombasthenia 1 for gene: ITGA2B Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

gene: ITGA2B was added gene: ITGA2B was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: ITGA2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA2B were set to Glanzmann thrombasthenia 1