Cytopenias and congenital anaemias
Gene: IKZF1EnsemblGeneIds (GRCh38): ENSG00000185811
EnsemblGeneIds (GRCh37): ENSG00000185811
OMIM: 603023, Gene2Phenotype
IKZF1 is in 6 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment 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.
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
Unknown
Phenotypes
Acute lymphoblastic leukemia (ALL)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- Acute lymphoblastic leukemia (ALL)
- Immunodeficiency, common variable, 13 616873
- Tags
- OMIM
- 603023
- Clinvar variants
- Variants in IKZF1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Removed Tag, Added Tag
Louise Daugherty (Genomics England Curator)Tag somatic-germline was removed from gene: IKZF1. Tag somatic tag was added to gene: IKZF1.
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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for IKZF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for IKZF1 were set to Acute lymphoblastic leukemia (ALL);Immunodeficiency, common variable, 13 616873
Added New Source
Louise Daugherty (Genomics England Curator)IKZF1 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
Created
Louise Daugherty (Genomics England Curator)IKZF1 was created by LouiseD