Cytopenia - NOT Fanconi anaemia

Gene: IKZF1

Amber List (moderate evidence)

IKZF1 (IKAROS family zinc finger 1)
EnsemblGeneIds (GRCh38): ENSG00000185811
EnsemblGeneIds (GRCh37): ENSG00000185811
OMIM: 603023, Gene2Phenotype
IKZF1 is in 3 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: IKZF1; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Acute lymphoblastic leukemia (ALL);Immunodeficiency, common variable, 13,616873; PMID(s): none submitted
Created: 6 Feb 2019, 3:13 p.m.

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.
Created: 6 Feb 2019, 3:12 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Amber
  • Wessex and West Midlands GLH
Phenotypes
  • Acute lymphoblastic leukemia (ALL)
  • Immunodeficiency, common variable, 13,616873
OMIM
603023
Clinvar variants
Variants in IKZF1
Penetrance
None
Panels with this gene

History Filter Activity

6 Feb 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to IKZF1.

6 Feb 2019, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to IKZF1. Mode of inheritance for gene IKZF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Acute lymphoblastic leukemia (ALL); Immunodeficiency, common variable, 13,616873 for gene: IKZF1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

6 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: IKZF1 was added gene: IKZF1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: IKZF1 was set to