Cytopenias and congenital anaemias
Gene: ITGB3

ITGB3 (integrin subunit beta 3)
EnsemblGeneIds (GRCh38): ENSG00000259207
EnsemblGeneIds (GRCh37): ENSG00000259207
OMIM: 173470, Gene2Phenotype
ITGB3 is in 6 panels

1 review

Helen Brittain (Genomics England Curator)

None of the phenotypes are consistent with the inclusion criteria. Glanzmann thrombasthenia is an inherited (AR) bleeding disorder (green on this panel), where as NAIT is a transient albeit potentially serious condition in a neonate which causes thrombocytopaenia owing to genetic differences between parents of a fetus (mother has antibodies to a platelet antigen, fetus has the antigen). Not appropriate for inclusion on this panel.
Created: 9 Mar 2017, 4:32 p.m.

Mode of inheritance
Other - please specify in evaluation comments

Phenotypes
PL(A) platelet antigen neonatal alloimmune thrombocytopaenia; Glanzmann thrombasthenia, 273800

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

Panel version: 0.522

Details

Mode of Inheritance

Other - please specify in evaluation comments

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen

Phenotypes

PL(A) platelet antigen Glanzmann thrombasthenia, 273800

OMIM

173470

Clinvar variants

Variants in ITGB3

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

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

ITGB3 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red Model of inheritance for gene ITGB3 was set to Other - please specify in evaluation comments

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

ITGB3 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen

17 Feb 2017, Gel status: 0

Created