Cytopenias and congenital anaemias
Gene: IKZF1Comment on list classification: Enough evidence for this gene to be green for Immunodeficiency, common variable, 13, however I am unsure whether this disorder should be included on this panel.Created: 7 Mar 2017, 3:28 p.m.
Comment on list classification: This is associated with somatic variants for Acute lymphoblastic leukemia (ALL), but germline variants are associated with Immunodeficiency, common variable, 13 which can include Thromocytopenia and Pancytopenia.Created: 7 Mar 2017, 3:26 p.m.
Mode of inheritance
Unknown
Phenotypes
Acute lymphoblastic leukemia (ALL)
Variants in this GENE are reported as part of current diagnostic practice
Tag somatic-germline was removed from gene: IKZF1. Tag somatic tag was added to gene: IKZF1.
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for IKZF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for IKZF1 were set to Acute lymphoblastic leukemia (ALL);Immunodeficiency, common variable, 13 616873
IKZF1 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
IKZF1 was created by LouiseD